Metrics
Publication
238
Open Access
5
UN Sustainable Development Goals
Education
2022 - Present
2022 - PresentPostgraduate
Istanbul University, Spain
2022 - 2024
2022 - 2024Postgraduate
Universitat de Barcelona, Faculty of Medicine and Health Sciences (Facultat de Medicina i Ciències de la Salut), Neurometabolic Unit Sant Joan de Déu, Spain
2014 - 2022
2014 - 2022Doctorate
Istanbul University, Health Sciences Institute, İstanbul Tıp Fakültesi Bölümü, Turkey
2011 - 2014
2011 - 2014Post Doctorate of Medicine
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences , Turkey
2006 - 2011
2006 - 2011Expertise In Medicine
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences , Turkey
Dissertations
2023
2023Doctorate
NUTRITIONAL THERAPY APPLIED IN HEREDITARY METABOLISM DISEASES IN TERMS OF NON-COMMUNICATIVE CHRONIC DISEASES ASSESSMENT OF RISK FACTORS AND SOLUTION SUGGESTIONS
Istanbul University, Health Sciences Institute, İstanbul Tıp Fakültesi Bölümü
2011
2011Expertise In Medicine
yağ asidi oksidasyon bozukluklarında kardiyolojik değerlendirme
Istanbul University, Istanbul Medical Faculty, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı
Foreign Languages
B2 Upper Intermediate
B2 Upper IntermediateEnglish
Certificates, Courses and Trainings
2023
2023ORPHEUS SÜRECİ VE DANIŞMANLIK EĞİTİMİ KURSU
Education Management and Planning
İstanbul Üniversitesi
2021
2021İyi klinik uygulamalar
Health&Medicine
Brookwood Global
2020
2020Eğiticinin eğitimi
Health&Medicine
İstanbul Üniversitesi
Research Areas
Health Sciences
Research Areas Based on Academic Activities
Avesis Research Areas
WoS Research Areas
Scopus Research Areas
Academic Positions
2020 - Present
2020 - PresentAssistant Professor
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences
2017 - Present
2017 - PresentLecturer PhD
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences
Non Academic Experience
2015 - 2017
2015 - 2017Mediccal doctor
Hospital, Tokat Devlet Hastanesi, Department of pediatric metabolism, Mediccal doctor
Courses
Undergraduate
Undergraduate
Case studies in inherited metabolic diseases
Healthy eating principles
Case examples in inherited metabolic diseases
Problems in feeding babies and young children
INTERACTIVE CASE DISCUSSION/ Vitamin B12 Deficiency
INTERACTIVE CASE DISCUSSION Feeding of Infant and Child
Complementary Feeding
The principles of healty nutrition
INTERACTIVE CASE DISCUSSION Common Congenital Metabolic Diseases
Definitions in congenital metabolic diseases
INTERACTIVE CASE DISCUSSION Principles of infant nutrition
Problems in feeding babies and young children
INTERACTIVE CASE DISCUSSION Frequent Inborn Errors of Metabolism
breastfeeding
definitions in inborn errors of metabolism
INTERACTIVE CASE DISCUSSION Approach to B12 Deficiency with Case Examples
Eating disorders in children
Breast Feeding
Articles
All (51)
SCI-E, SSCI, AHCI (44)
SCI-E, SSCI, AHCI, ESCI (48)
ESCI (3)
Scopus (48)
TRDizin (3)
Other Publications (2)
2026
20261. The Validity and Reliability of the Turkish Version of the Parental Needs Scale for Rare Diseases (PNS-RD).
Bayraktar S., Kudubeş A. A., Aydın A., Karaca M., Balcı M. C., Gökçay G. F.
Journal for specialists in pediatric nursing : JSPN
, vol.31, no.2, 2026 (SCI-Expanded, SSCI, Scopus)
2026
20262. Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.
Karaca M., Gedikbasi A., Selamioğlu A., Yesil A., Toksoy G., Gulec Ç., et al.
Human genomics
, 2026 (SCI-Expanded, Scopus)
2026
20263. Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review
Selamioglu A., ALTUN M., Bliven K., Ünverengil G., Güneş D., KARACA M., et al.
American Journal of Medical Genetics, Part A
, vol.200, no.2, pp.438-445, 2026 (SCI-Expanded, Scopus)
2025
20254. A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics
Balci M. C., KOR D., YILDIZ Y., Karaca M., BULUT F. D., Kahraman A. B., et al.
Orphanet Journal of Rare Diseases
, vol.20, no.1, 2025 (SCI-Expanded, Scopus)
2025
20255. Impact of individualized and supervised strength training on muscle physiology, metabolic control and quality of life in metabolic myopathies
Zübarioğlu T., Yakal S., Yegin F., Uygur E., Şahinkaya T., Dinçer Ş., et al.
Scientific Reports
, vol.15, no.1, 2025 (SCI-Expanded, Scopus)
2025
20256. Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis
Kahraman S., Gedikbasi A., Karaca M., Ercan C. C., Balci M. C., Gokcay G. F.
PEDIATRIC RESEARCH
, 2025 (SCI-Expanded, Scopus)
2025
20257. Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency
Neijmann S. T., Gunes D., Karaca M., Karaman V., Balci M. C., Gökçay G. F., et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
, vol.26, no.19, 2025 (SCI-Expanded, Scopus)
2025
20258. Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant
Selamioğlu A., Kılıç Ş., ASLANGER A. D., KARACA M., Balcı M. C., UYGUNER Z. O., et al.
Turkish Journal of Pediatrics
, vol.67, no.3, pp.417-427, 2025 (SCI-Expanded, Scopus, TRDizin)
2025
20259. Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response
ZÜBARİOĞLU T., Kadıoğlu-Yılmaz B., KÖSE E., Teke-Kısa P., Balcı M. C., Yazıcı H., et al.
Journal of Inherited Metabolic Disease
, vol.48, no.4, 2025 (SCI-Expanded, Scopus)
2025
202510. The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder
KÖSE E., İNCİ A., Yazıcı H., ZÜBARİOĞLU T., KILAVUZ S., ÇIKI K., et al.
European Journal of Pediatrics
, vol.184, no.6, 2025 (SCI-Expanded)
2025
202511. Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening.
Akan G., Balcı M. C., Tuncel G., Karaca M., Kazan H. H., Özketen A. Ç., et al.
Orphanet journal of rare diseases
, vol.20, no.1, pp.250, 2025 (SCI-Expanded, Scopus)
2025
202512. Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics
Teker B., Akan G., Kazan H. H., ÖZGEN ÇOBAN Ö., Tatonyan S., BALCI M. C., et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
, vol.26, no.11, 2025 (SCI-Expanded, Scopus)
2025
202513. An Oxford Nanopore Technologies-Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort.
Tuncel G., Balcı M. C., Akan G., Kazan H. H., Özgen Ö., Özketen A. Ç., et al.
International journal of genomics
, vol.2025, no.1, pp.5552662, 2025 (SCI-Expanded, Scopus)
2025
202514. Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions
Gunes D., Karaca M., Durmus A., Ak B., Aktay Ayaz N., Altınel Z. U., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, vol.184, no.5, 2025 (SCI-Expanded, Scopus)
2025
202515. Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management
Selamioǧlu A., Kozanoǧlu T., Hacloǧlu I., Balcl M. C., KARACA M., Gedikbaşl A., et al.
Journal of Pediatric Endocrinology and Metabolism
, vol.38, no.3, pp.292-298, 2025 (SCI-Expanded, Scopus)
2025
202516. EVALUATION OF GROWTH IN LONG-TERM FOLLOW-UP IN INDIVIDUALS WITH PHENYLKETONURIA FENİLKETONÜRİLİ BİREYLERDE UZUN SÜRELİ TAKİPTE BÜYÜMENİN DEĞERLENDİRİLMESİ
Balci M. C., Güven A. G., Karaca M., Gökçay G.
Istanbul Tip Fakultesi Dergisi
, vol.88, no.1, pp.38-44, 2025 (ESCI, Scopus, TRDizin)
2024
202417. The relationship between menstrual cycle characteristics, premenstrual syndrome prevalence and blood phenylalanine level in women with PKU
Selamioğlu A., Tandoğan Z., Balcı M. C., Karaca M., Kozanoğlu T., Yesil A., et al.
Molecular Genetics and Metabolism Reports
, vol.41, 2024 (SCI-Expanded, Scopus)
2024
202418. Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency
Balci M. C., GEDİKBAŞI A., Dogan S. A., Kahraman S., Tatoryan S., Neijmann S. T., et al.
Scientific Reports
, vol.14, no.1, 2024 (SCI-Expanded)
2024
202419. Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population.
Kazan H. H., Karaca M., Akan G., Özgen Ö., Tuncel G., Özketen A. Ç., et al.
Gene
, vol.928, pp.148782, 2024 (SCI-Expanded, Scopus)
2024
202420. Challenging Childhood Obesity: The Influence of Education and Close Monitoring on Obesity-Related Behaviors.
Sunnetci Silistre E., Yesil A., Kozanoglu T., Balci M. C., Karaca M., Gokcay G. F.
Healthcare (Basel, Switzerland)
, vol.12, no.20, 2024 (SCI-Expanded)
2024
202421. Evaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria.
Balci M. C., Karaca M., Gunes D., Korbeyli H. K., Selamioglu A., Gokcay G. F.
Nutrients
, vol.16, no.19, 2024 (SCI-Expanded, Scopus)
2024
202422. Experiences of mothers caring for children with rare diseases in Turkey.
BAYRAKTAR S., AYDIN A., Karaca M., Balcı M. C., Gökçay G. F., Göktepe N.
Journal of genetic counseling
, 2024 (SCI-Expanded, SSCI, Scopus)
2024
202423. Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.
Selamioğlu A., Balcı M. C., Karaca M., Khalil Y., Hirachan R., Durmuş Tekçe H., et al.
JIMD reports
, vol.65, no.5, pp.305-312, 2024 (Scopus)
2024
202424. Neurological findings in patients with organic acidemias
Alıyeva G., Karakiraz A., Özdemir S., Durmuş A., Ak B., Kılıç Ş., et al.
European Journal of Neurology , vol.31, no.31, pp.12, 2024 (Conference Book)
2024
202425. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals
Zübarioğlu T., Kıykım E., Köse E., Eminoğlu F. T., Teke Kısa P., Balcı M. C., et al.
Molecular Genetics and Metabolism , vol.2, no.142, pp.1-10, 2024 (Scopus)
2024
202426. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals
ZÜBARİOĞLU T., KIYKIM E., KÖSE E., EMİNOĞLU F. T., TEKE KISA P., Balcı M. C., et al.
Molecular Genetics and Metabolism
, vol.142, no.2, 2024 (SCI-Expanded, Scopus)
2024
202427. Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.
Selamioǧlu A., Doǧan B. Y., Balcl M. C., Kalaycl T., Karaca M., Ak B., et al.
Molecular syndromology
, vol.15, no.3, pp.257-268, 2024 (SCI-Expanded, Scopus)
2024
202428. Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
YILDIZ Y., Kuseyri Hübschmann O., Akgöz Karaosmanoğlu A., Manti F., Karaca M., Schwartz I. V. D., et al.
Journal of inherited metabolic disease
, vol.47, no.3, pp.431-446, 2024 (SCI-Expanded, Scopus)
2024
202429. Evaluation of Complete Blood Count Parameters in Patients with Methylmalonic Acidemia
BALCI M. C., KARACA M., GÖKÇAY G. F.
JOURNAL OF CHILD - COCUK DERGISI
, vol.24, no.3, pp.141-146, 2024 (ESCI, TRDizin)
2023
202330. A different perspective into clinical symptoms in CPT I deficiency.
Balci M. C., Karaca M., Selamioglu A., Korbeyli H. K., Durmus A., Ak B., et al.
Molecular genetics and metabolism reports
, vol.38, pp.101032, 2023 (SCI-Expanded, Scopus)
2023
202331. Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.
Kalay I., Gulec C., Balcı M. C., Toksoy G., Gokcay G., Basaran S., et al.
Annals of human genetics
, vol.87, no.6, pp.285-294, 2023 (SCI-Expanded, Scopus)
2023
202332. Evaluation of the risk factors for noncommunicable diseases in patients with inborn errors of amino acid metabolism receiving nutrition therapy.
Balci M. C., Karaca M., Yesil A., Selamioglu A., Korbeyli H. K., Durmus A., et al.
Journal of pediatric endocrinology & metabolism : JPEM
, 2023 (SCI-Expanded, Scopus)
2023
202333. Concurrent CobalaminC and plasminogen deficiencies in a patient with chronic thrombotic microangiopathy
DİRİM A. B., Safak S., BALCI M. C., Ozyavuz P., Garayeva N., TİRYAKİ T. O., et al.
NEPHRON
, 2023 (SCI-Expanded, Scopus)
2023
202334. Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder
Susgun S., Kesim Y., Khalilov D., Sirin N. G., Gezegen H., Salman B., et al.
NEUROLOGICAL SCIENCES
, vol.44, no.7, pp.2527-2540, 2023 (SCI-Expanded, Scopus)
2023
202335. Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature
Selamioǧlu A., Karaca M., Balcl M. C., Körbeyli H. K., Durmuş A., Ylldlz E. P., et al.
MOLECULAR SYNDROMOLOGY
, vol.14, no.3, pp.231-238, 2023 (SCI-Expanded, Scopus)
2023
202336. Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
GEDİKBAŞI A., TOKSOY G., KARACA M., GÜLEÇ Ç., BALCI M. C., Gunes D., et al.
FRONTIERS IN GENETICS
, vol.14, 2023 (SCI-Expanded, Scopus)
2022
202237. Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis.
Kozanoǧlu T., Balcl M. C., Karaca M., Gökçay G. F.
Journal of pediatric endocrinology & metabolism : JPEM
, vol.36, no.2, pp.167-173, 2022 (SCI-Expanded, Scopus)
2022
202238. A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT
Katler Q. S., Stepien K. M., Paull N., Patel S., Adams M., BALCI M. C., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, vol.45, no.6, pp.1106-1117, 2022 (SCI-Expanded)
2022
202239. Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders
Balci M. C., Karaca M., Ergul Y., Omeroglu R. E., Demirkol M., Gokcay G. F.
PEDIATRICS INTERNATIONAL
, vol.64, no.1, 2022 (SCI-Expanded, Scopus)
2020
202040. The Use of Social Network in Daily Pediatric Practice and Education: Turkish Pediatric Atelier
Gonullu E., Soysal A., Can I., Tutak E., Tunc T., Yildiz I., et al.
INTERNATIONAL JOURNAL OF PEDIATRICS
, vol.2020, 2020 (ESCI, Scopus)
2017
201741. Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Gruenert S. C., Schmitt R. N., Schlatter S. M., Gemperle-Britschgi C., Balci M. C., Berg V., et al.
Molecular genetics and metabolism
, vol.122, pp.67-75, 2017 (SCI-Expanded, Scopus)
2017
201742. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Gruenert S. C., Schlatter S. M., Schmitt R. N., Gemperle-Britschgi C., Mrazova L., Balci M. C., et al.
Molecular genetics and metabolism
, vol.121, no.3, pp.206-215, 2017 (SCI-Expanded, Scopus)
2016
201643. Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI.
Tamay Z. Ü., Gokcay G. F., Dilek F., Balci M. C., Ozceker D., Demirkol M., et al.
JIMD reports
, vol.30, pp.53-57, 2016 (SCI-Expanded, Scopus)
2014
201444. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations
Kantaputra P. N., Kayserili H., Guven Y., Kantaputra W., Balci M. C., Tanpaiboon P., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.164, no.6, pp.1443-1453, 2014 (SCI-Expanded, Scopus)
2014
201445. Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI
KANTAPUTRA P. N., Kayserili H., Guven Y., KANTAPUTRA W., Balci M. C., Tanpaiboon P., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, vol.37, no.2, pp.263-268, 2014 (SCI-Expanded)
2012
201246. OCTN2 GENE MUTATIONS IN TURKISH PATIENTS WITH PRIMARY CARNITINE DEFICIENCY
Yucel-Yilmaz D., Ersoy M., Candan S., Balci M. C., Kilic M., Gokcay G. F., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, vol.35, 2012 (SCI-Expanded, Scopus)
2012
201247. MAPLE SYRUP URINE DISEASE: USE OF LEUCINE FREE MEDICAL FOODS AND AMINO ACID SUPPLEMENTS IN DIETARY TREATMENT
Cakir N., Tuncer S., Balci M. C., Ersoy M., Demirkol M., Gokcay G. F.
JOURNAL OF INHERITED METABOLIC DISEASE
, vol.35, 2012 (SCI-Expanded)
2012
201248. alpha-METHYL-COA RACEMASE DEFICIENCY: REPORT OF A NEW MUTATION AND RESPONSE TO TREATMENT IN A PATIENT WITH NEONATAL CHOLESTATIC LIVER DISEASE AND ATTENTION DEFICIT HYPERACTIVITY DISORDER
Ersoy M., Cakir N., Balci M. C., Demirkol M., Gokcay G. F.
JOURNAL OF INHERITED METABOLIC DISEASE
, vol.35, 2012 (SCI-Expanded, Scopus)
2012
201249. CONGENITAL DISORDERS OF GLYCOSYLATION TYPE IA: ARE VACUOLATED PERIPHERAL BLOOD CELLS A DIAGNOSTIC CLUE?
Ersoy M., Balci M. C., Ozguven A. A., Unuvar A., Matthijs G., Jaeken J., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, vol.35, 2012 (SCI-Expanded, Scopus)
2011
201150. Öksürük ve öksürük şurupları.
Balcı M. C., Somer A.
Klinik Tıp Pediatri Dergisi , vol.3, no.1, pp.1-6, 2011 (Non Peer-Reviewed Journal)
2011
201151. THE CARDIAC MANIFESTATION AND RESPONSE TO L-CARNITINE TREATMENT IN 14 CASES WITH PRIMARY SYSTEMIC CARNITINE DEFICIENCY: CORRELATION WITH GENOTYPE
Balci M. C., Yucel D., Ergul Y., ÖZGÜL R. K., Baykal T., Aktuglu-Zeybek C., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, vol.34, 2011 (SCI-Expanded, Scopus)
Papers Presented at Peer-Reviewed Scientific Conferences
2026
20261. Mukopolisakkaridoz Tanılı Bir Çocuğun Bakım Yükü: Evlat Edinmiş Annenin Deneyimi Üzerine Tek Olgu Nitel Çalışma
BAYRAKTAR S., NALBANT H., BALCI M. C., KARACA M., Şentürk Taş C., GÖKÇAY G. F.
48. Pediatri Günleri 27. Pediatri Hemşireliği Günleri 4. Pediatri Diyetisyenliği Günleri, İstanbul, Turkey, 7 - 09 April 2026, (Summary Text)
2026
20262. NADİR HASTALIĞA SAHİP ÇOCUKLARIN ANNELERİNİN DUYGUSAL BAKIM GEREKSİNİMLERİ, YAŞANTILARI VE UMUTLARININ İNCELENMESİ: TEMATİK BİR ANALİZ
BAYRAKTAR S., NALBANT H., BALCI M. C., KARACA M., GÖKÇAY G. F.
VI. INTERNATİONAL ÇANAKKALE SCIENTIFIC STUDIES CONGRESS, Ankara, Turkey, 27 - 29 March 2026, (Summary Text)
2025
20253. GLUTARİK ASİDEMİ TİP 1'İN ERKEN BİYOKİMYASAL GÖSTERGELERİ: ALTI AYLIK BİR İNFANTTA ATAK DÖNEMĠNDE BELİRGİN AMİNOASİT VE HEMATOLOJİK ANORMALLİKLER
AYDEMİR D., karaduman m., tatonyan s., BALCI M. C., KARACA M., GÖKÇAY G. F., et al.
61. Ulusal Nöroloji Kongresi, Antalya, Turkey, 13 - 17 December 2025, (Summary Text)
2025
20254. Rapid and Accurate Phenylketonuria Diagnosis: Integrating ONT-Based Molecular Screening into Newborn Programs
Tuncel G., BALCI M. C., Akan G., Kazan H. H., Ozgen O., Ozketen A. C., et al.
58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, Italy, 24 - 27 May 2025, vol.33, pp.404, (Summary Text)
2025
20255. in silico pathogenicity analysis of CPT-1, CPT-2 and OCTN2 Variants in Carnitine Cycle and Transport Disorders reveals structural and functional impacts
Akan G., BALCI M. C., Tuncel G., KARACA M., Ozketen A. C., Kazan H. H., et al.
58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, Italy, 24 - 27 May 2025, vol.33, pp.400, (Summary Text)
2025
20256. Fenilketonüri hastalığında metabolik kontrol düzeyine göre fonksiyonel bağlantısallık değişimleri
KURT E., KIZILATEŞ EVİN G., KARACA M., SELAMİOĞLU A., Yesil A., İşcen P., et al.
2. ULUSAL NÖROGÖRÜNTÜLEME KONGRESİ, Ankara, Turkey, 11 - 13 September 2025, pp.69, (Summary Text)
2024
20247. COMPARISON OF CIRCULATING FREE MTDNA LEVELS IN MITOCHONDRIAL DISEASES WITH DIFFERENT MOLECULAR BASIS
BALCI M. C., GEDİKBAŞI A., KARACA M., DOĞAN Ş. A., Bekmez B., Tatonyan S., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, SSIEM 2024, Porto, Portugal, 03 October 2024, (Summary Text)
2024
20248. Evaluation of Bone Health In Patients With Maple Syrup Urine Disease (MSUD): Single Center Experience
KILIÇ Ş., KARACA M., AK B., ÇOLAK AKTAŞ Ü., GÜNEŞ D., BALCI M. C., et al.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Porto, Portugal, 3 - 06 September 2024, (Full Text)
2024
20249. DETERMINATION OF COGNITIVE AND NEUROPSYCHIATRIC EFFECT OF PHENYLKETONURIA AT EARLY TREATED ADULT PATIENTS; MR SPECTROSCOPY AND PHENYLALANINE LEVELS: PRELIMINARY RESULTS
KARACA M., KURT E., Kizilates Evin G., SELAMİOĞLU A., Canlı M., BALCI M. C., et al.
SSIEM 2024 Annual Symposium, Porto, Portugal, 3 - 06 September 2024, (Summary Text)
2024
202410. Congenital disorders of glycosylation: Clinical evaluation in 35 cases
Ak B., Kılıç Ş., Balcı M. C., Karaca M., Güneş D., Çolak Aktaş Ü., et al.
SSIEM ANNUAL SUMPOSİUM, Porto, Portugal, 2 - 06 September 2024, pp.1, (Full Text)
2024
202411. Lysosomal Enzyme Activity Testing Process Quality Assurance During the Preanalytic- Analytic and Postanalytic Lab Phases
Gedikbaşı A., Kılıç Ş., Güneş D., Ak B., Çolak Aktaş Ü., Karaca M., et al.
24) SSIEM ANNUAL SUMPOSİUM, Porto, Portugal, 2 - 06 September 2024, pp.1, (Full Text)
2024
202412. Genetic and phenotypic spectrum of glutaric aciduria type 1 in 30 patients- a single centre experience
Selamioğlu A., Kılıç Ş., Karaca M., Balcı M. C., Çolak Aktaş Ü., Gökçay G. F.
24) SSIEM ANNUAL SUMPOSİUM, Porto, Portugal, 2 - 06 September 2024, pp.1, (Full Text)
2024
202413. BIOTINIDASE DEFICIENCY DURING NEWBORN SCREENING PROGRAM: EXPERIENCE WITH LATE DIAGNOSED CASES
Çolak Aktaş Ü., Kılıç Ş., Balcı M. C., Karaca M., Güneş D., Ak B., et al.
SSIEM ANNUAL SUMPOSİUM, Porto, Portugal, 2 - 06 September 2024, pp.1, (Full Text)
2024
202414. Circulating cell-free mitochondrial DNA as a proinflammatory DAMP for inherited hemolytic anemia
Tekin Neijmann Ş., GEDİKBAŞI A., Doğan Ş. A., Tatonyan S., BALCI M. C., Bekmez B., et al.
48th FEBS CONGRESS, Milan, Italy, 29 June 2024, pp.484, (Summary Text)
2024
202415. Akut Flask Paralizi İle Başvuran Tirozinemi Tip I Hastaları
Kılıç Ş., Karaca M., Balcı M. C., Gökçay G. F.
XVII. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Antalya, Turkey, 28 April - 02 May 2024, pp.131-132, (Summary Text)
2024
202416. Klasik Homosistinüri Hastalarında Kolin Durumu ve Kolin Takviyesinin Etkileri
KAHRAMAN S., GEDİKBAŞI A., KARACA M., ERCAN C. C., BALCI M. C., GÖKÇAY G. F.
XVII. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Antalya, Turkey, 28 April - 02 May 2024, (Full Text)
2024
202417. Üre Döngüsü Bozukluğu Tanılı Çocukların Ebeveynlerinin Deneyimleri; Sosyodemografik Veriler Ve Karşılaşılan Zorluklar
Tırtır Yılmaz B., Balcı M. C., Karaca M., Atalar F., Gökçay G. F.
XVII. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Antalya, Turkey, 28 April - 02 May 2024, pp.289-290, (Summary Text)
2024
202418. metabolik hastalık mı, malnutrisyon mu?
Kılıç Ş., Bölük Aytaç D., Karaca M., Balcı M. C., Ak B., Gökçay G. F.
46. Pediatri Günleri , İstanbul, Turkey, 16 - 19 April 2024, pp.1, (Summary Text)
2023
202319. Mitokondriyal hastalıklarda nörogörüntüleme: alışılmadık tutulumların nadir genetik nedenleri
PEMPEGÜL YILDIZ E., KÜREKCİ F., BALCI M. C., KARACA M., MARAŞ GENÇ H., GÖKÇAY G. F.
Ulusal Çocuk Nörolojisi Kongresi, Muğla, Turkey, 17 - 21 May 2023, pp.147-148, (Full Text)
2023
202320.
Kılıç Ş., Kılıç S., Gedikbaşı A., Balcı M. C., Karaca M., Kozanoğlu T., et al.
1. ulusal çocuk beslenme kongresi, Antalya, Turkey, 25 - 29 October 2023, pp.40, (Summary Text)
2023
202321. glikojen depo tip1a hastalarının antropometrik ölçümlerinin ve beslenme durumlarının değerlendirilmesi
Hacıoğlu İ., Kozanoğlu T., Kılıç Ş., Ak B., Selamioğlu A., Balcı M. C., et al.
I. Ulusal Çocuk Beslenme Kongresi’ne (ÇOBES), Gaziantep, Turkey, 25 - 29 October 2023, pp.1, (Summary Text)
2023
202322. Cellular oxidative damage in congenital disorders of glycosylation
Ak B., Karaca M., Gedikbaşı A., Aydın A. F., Balcı M. C., Bilgin A., et al.
SSIEM Annual Symposium 2023, Yerushalayim, Israel, 29 August - 01 September 2023, pp.745, (Summary Text)
2023
202323. Pregnancy, Maternal and Child Health in Women with Inherited Metabolic Disorders
Karaca M., Balcı M. C., Selamioğlu A., Körbeyli H. K., Durmuş A., Çakar E., et al.
SSIEM Annual Symposıum 2023, Yerushalayim, Israel, 29 August - 01 September 2023, pp.270, (Summary Text)
2023
202324. Inborn errors of metabolism in adults Pregnancy, Maternal and Child Health in Women with Inherited Metabolic Disorders
KARACA M., BALCI M. C., SELAMİOĞLU A., körbeyli h. k., DURMUŞ A., AK B., et al.
SSİEM ANNUAL SYMPOSİUM 2023, 29 August 2023, vol.46, pp.540, (Full Text)
2023
202325. Rapid, accurate and comprehensive diagnostic method for the detection of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease using long-read third-generation sequencing technology
Teker B., Tatonyan S., Balcı M. C., Karaca M., Akan G., Özgen Ö., et al.
SSIEM Annual Symposium 2023, Tel-Aviv-Yafo, Israel, 29 August - 01 September 2023, vol.46, no.686, pp.361, (Summary Text)
2023
202326. Evaluation of the Risk Factors for Noncommunicable Diseases in Patients with Inborn Errors of Amino Acid Metabolism Receiving Nutrition Therapy
BALCI M. C., KARACA M., Yeşil A., SELAMİOĞLU A., Körbeyli H. K., DURMUŞ A., et al.
SSIEM Annual Symposium 2023, Jerusalem, Israel, 29 August - 01 October 2023, vol.46, pp.195, (Summary Text)
2023
202327. Mitochondrial dysfunction in a disorder of transsulphuration: Cystathionine β-synthase deficiency
Balcı M. C., Gedikbaşı A., Kahraman S., Tatonyan S., Tekin Neijmann Ş., Karaca M., et al.
SSIEM Annual Symposium 2023, Tel-Aviv-Yafo, Israel, 29 August 2023, vol.46, pp.148, (Summary Text)
2023
202328. Retrospective Analysis Of Carbohydrate-Deficient Transferrin For CDG Screening: A Single Center Study
Özgen Ö., Güdek Kılıç F., Gedikbaşi A., Balci M. C., Karaca M., Durmuş A., et al.
SSIEM Annual Symposium 2023, Tel-Aviv-Yafo, Israel, 29 August 2023, vol.46, pp.257, (Summary Text)
2023
202329. Pregnancy, Maternal and ChildHealth in Women with Inherited Metabolic Disorders
KARACA M., BALCI M. C., SELAMİOĞLU A., Körbeyli H. K., DURMUŞ A., AK B., et al.
SSIEM Annual Symposium 2023, Jerusalem, Israel, 29 August - 01 October 2023, vol.46, pp.270, (Summary Text)
2023
202330. Menstrual cycle characteristics, premenstrual syndrome and blood phenylalanine level relationship in women with PKU
SELAMİOĞLU A., Tandoğan Z., BALCI M. C., KARACA M., KOZANOĞLU T., YEŞİL A., et al.
SSIEM Annual Symposium 2023, Jerusalem, Israel, 29 August 2023, vol.46, pp.494, (Summary Text)
2023
202331. Immunomodulation and High-Dose Enzyme Replacement Therapy (ERT) Experience in Cross-Reactive Immunological Material (CRIM) Negative Infantile Pompe Patients
Selamioğlu A., Durmuş A., Karaca M., Balcı M. C., Gökçay G. F.
VIII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Bursa, Turkey, 3 - 07 May 2023, pp.60, (Summary Text)
2023
202332. Neuraminidase Deficiency: 5 Case Reports
Ak B., Balcı M. C., Karaca M., Gökçay G. F.
VIII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Bursa, Turkey, 3 - 07 May 2023, pp.41, (Summary Text)
2023
202333. Farber Disease and New Treatment Options with Three Cases
Durmuş A., Balcı M. C., Karaca M., Gökçay G. F.
VIII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Bursa, Turkey, 3 May - 07 October 2023, pp.62, (Summary Text)
2023
202334. Fluorometric Analysis and Validation of Tripeptidyl Peptidase-1 in Dry Blood Samples and Leukocytes in the Diagnosis of Neuronal Ceroid Lipofuxinosis 2
Teker B., Tatonyan S., Gedikbaşı A., Aydın A. F., Balcı M. C., Karaca M., et al.
VIII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Bursa, Turkey, 3 - 07 May 2023, pp.64, (Summary Text)
2023
202335. İstanbul Tıp Fakültesi Elektronik Sağlık Kayıt Verilerinde Hastalığa Özgü Fenotiplerin Modellenmesi ile Mukopolisakkaridoz Tip I Hastalarının Belirlenmesi: Tek Merkezli bir Gerçek Yaşam Verisi Araştırması
BALCI M. C., Işık M., Gökalp T., Ceylan U., ŞEN S., KARACA M., et al.
VIII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, 3-7 Mayıs 2023, Bursa, 3 - 07 May 2023, pp.114, (Full Text)
2023
202336. Pancreatic Involvement in Hereditary Metabolic Diseases
Selamioğlu A., Karaca M., Balcı M. C., Gökçay G. F.
45. Pediatri Günleri / 24. Pediatri Hemşireliği Günleri, İstanbul, Turkey, 25 - 28 April 2023, pp.327-330, (Summary Text)
2023
202337. OTC Hastalarında Klinik Bulguların ve Laboratuvar Parametrelerinin Değerlendirilmesi
Tırtır Yılmaz B., Ak B., Balcı M. C., Karaca M., Gökçay G. F.
45. Pediatri Günleri, İstanbul, Turkey, 25 - 28 April 2023, pp.1, (Unpublished)
2023
202338. Mitokondriyal Aminoasilt-RNA Sentetaz Eksikligi Olgularinda Serum FGF-21 Düzeylerinin Degerlendirilmesi
Tekin Neijmann Ş., Gedikbaşı A., Güneş D., Balcı M. C., Karaca M., Atalar F., et al.
TÜRK KLİNİK BİYOKİMYA DERNEĞİ XXIII. Ulusal Klinik Biyokimya Kongresi, Antalya, Turkey, 27 - 30 April 2023, pp.234, (Summary Text)
2022
202239. Metabolik Hastalıklarda Endokrinolojik Sorunlar; Biz ne yapabiliriz ?
İnan Balcı E., Balcı M. C., Karakılıç Özturan E., Yıldız M., Poyrazoğlu Ş., Baş F., et al.
XXVI. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 26 October - 30 November 2022, pp.91, (Full Text)
2022
202240. Are biomarkers of metabolic monitoring helpful in foreseeing cardiomyopathy in propionic acidemia
KÖK C., BALCI M. C., ASLANGER A. D., ÖZGÖR C., GÖKÇAY G. F.
SSIEM Annual Symposium 2022, Freiburg, Germany, 30 August - 02 September 2022, (Summary Text)
2022
202241. Demographic Characteristics and Phenotypic Findings of Patients with Dihydropterin Reductase Deficiency: Single Center Experience
Eryılmaz C. C., Balcı M. C., Ak B., Durmuş A., Körbeyli H. K., Karaca M., et al.
XVI. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Hatay, Turkey, 28 May - 01 June 2022, pp.126-129, (Full Text)
2022
202242. Diagnostic Usefulness of Whole Exome Sequence Analysis in cases with suspected mitochondrial disease: Single center experience
Gedikbaşı A., Balcı M. C., Karaca M., Toksoy G., Güleç Ç., Selamioğlu A., et al.
XVI. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Hatay, Turkey, 28 May - 01 June 2022, pp.144-146, (Full Text)
2022
202243. CONGENITAL GLYCOSYLATION DISORDERS: CLINICAL IN 30 CASES EVALUATION
Ak B., Balcı M. C., Karaca M., Gökçay G. F.
XVI. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Hatay, Turkey, 28 May - 01 June 2022, pp.117, (Summary Text)
2022
202244. Evaluation of Factors Affecting the Success of Follow-up and Treatment of Adults with Phenylketonuria Diagnosed through Newborn Screening
Tandoğan Z., Gedikbaşı A., Yeşil A., Balcı M. C., Karaca M., Selamioğlu A., et al.
44. PEDİATRİ GÜNLERİ 23. PEDİATRİ HEMŞİRELİĞİ GÜNLERİ, İstanbul, Turkey, 17 - 20 April 2022, pp.74-76, (Summary Text)
2022
202245. Phenylketonuria Detected in Newborns Presenting with Elevated Phenylalanine in the National Newborn Screening of the Ministry of Health Other Congenital Metabolic Diseases
Ak B., Balcı M. C., Karaca M., Burmacı Can N.
44. PEDİATRİ GÜNLERİ 23. PEDİATRİ HEMŞİRELİĞİ GÜNLERİ, İstanbul, Turkey, 17 - 20 April 2022, pp.84, (Summary Text)
2022
202246. Retrospective Evaluation of Our Cases Diagnosed with Thiamine Biotin-Sensitive Basal Ganglion Disease
Körbeyli H. K., Kılıç M. A., Balcı M. C., Pempegül Yıldız E., Gökçay G. F.
44. PEDİATRİ GÜNLERİ 23. PEDİATRİ HEMŞİRELİĞİ GÜNLERİ, İstanbul, Turkey, 17 - 20 April 2022, pp.85, (Summary Text)
2022
202247. ORGANİK ASİDEMİLİ ÇOCUKLARDA YAŞAM KALİTESİNİN DEĞERLENDİRİLMESİ
Uca Koç z., BALCI M. C., KARACA M., GÖKÇAY G. F.
19. Ulusal Uludağ Pediatri Kış Kongresi, Bursa, Turkey, 13 March 2022, pp.158, (Full Text)
2021
202148. Propionic and Methylmalonic Acidemia: Outcome of Nutritional Therapy and Nutritional Status
KÖK C., GÖKÇAY G. F., BALCI M. C., ÖZGÖR C.
14th International Congress of Inborn Errors of Metabolism, Sydney, Australia, 21 - 24 November 2021, vol.44, pp.1-461, (Summary Text)
2021
202149. Diagnostic Utility of Whole Exome Sequencing in patients with suspected mitochondrial disease: the single center experience in Turkish population
Gedikbaşı A., Toksoy G., Karaca M., Balcı M. C., Güleç Ç., Selamioğlu A., et al.
International Congress on Inborn Errors in Metabolism (ICIEM), Sydney, Australia, 19 - 24 November 2021, pp.1-3, (Summary Text)
2021
202150. Clinical and molecular features of Pompe patients: single center experience
Selamioğlu A., Karaca M., Balcı M. C., Durmuş A., Gökçay G. F.
14th International Congress of Inborn Errors of Metabolism 2021, Sydney, Australia, 21 - 24 November 2021, pp.11, (Summary Text)
2021
202151. Diagnosis utility of Whole Exome Sequencing in patients with suspected mitochondrial disease:the single center experience in Turkish population.
Gedikbaşı A., Toksoy G., Karaca M., Balcı M. C., Güleç Ç., Selamioğlu A., et al.
XIV International Congress of Inborn Errors of Metabolism, Sydney, Australia, 21 - 24 November 2021, pp.227-228, (Summary Text)
2021
202152. Covid- 19 Pandemisinin Fenilketonüri Yenidoğan Tarama Programı Üzerine Etkileri
Selamioğlu A., Karaca M., Balcı M. C., Burmacı Can N., Gökçay G. F.
II. Uluslararası Çocuk ve Kadın Doğum kongresi, Antalya, Turkey, 21 - 24 October 2021, pp.1, (Full Text)
2021
202153. RARE HERITAGE METABOLIC DISEASE IN THE DIFFERENTIAL DIAGNOSIS OF TREATMENT-RESISTANT SKIN LESIONS: PROLIDASE DEFICIENCY
Balcı M. C., Körbeyli H. K., Gökçay G. F.
43. Pediatri Günleri ve 22.Pediatri Hemşireliği Günleri, İstanbul, Turkey, 30 May - 02 June 2021, pp.293-294, (Full Text)
2021
202154. Hemolitik aneminin nadir bir nedeni: İki olgu ile triozfosfat izomeraz eksikliği
Selamioğlu A., Karaca M., Balcı M. C., Gökçay G. F., Durmuş A., Pempegül Yıldız E., et al.
43. Pediatri Günleri ve 22. Pediatri Hemşireliği Günleri Toplantısı, İstanbul, Turkey, 30 May - 02 June 2021, pp.161, (Full Text)
2020
202055. Mitokondriyal Hastalıklara Bütünsel Yaklaşım: Beş Aile Örneği
GEDİKBAŞI A., TOKSOY G., KARACA M., BALCI M. C., GÜLEÇ Ç., GÜNEŞ S., et al.
14. ULUSAL TIBBİ GENETİK KONGRESİ, ONLINE, Turkey, 20 - 22 November 2020, vol.31, pp.45, (Summary Text)
2019
201956. TEK DOZ STEROİD KULLANIMI İLE ORTAYA ÇIKAN ERİŞKİN YAŞ PARSİYEL OTC EKSİKLİĞİ OLGUSU
GÜZEY ARAS Y., ÜNLÜBAŞ Y., ÇAKMAK R., DHEİR H., BALCI M. C., Tunç A.
55. ULUSAL NÖROLOJİ KONGRESİ, Turkey, 15 - 21 November 2019, (Summary Text)
2019
201957. Gündelik pediatri pratiğinde sosyal ve mesleki ağ grubu kullanımına pediatristlerin yaklaşım, kabul ve memnuniyeti
GÖNÜLLÜ E., SOYSAL A., TUTAK E., TUNÇ T., YILDIZ İ., YEŞİLBAŞ O., et al.
63. Türkiye Milli Pediatri Kongresi, BAFRA, Cyprus (Kktc), 30 October - 03 November 2019, (Summary Text)
2019
201958. Günlük pediatri pratiğinde sosyal ağ kullanımı; Pediatri Atölyesi deneyimi
GÖNÜLLÜ E., SOYSAL A., TUTAK E., TUNÇ T., YILDIZ İ., YEŞİLBAŞ O., et al.
63. Türkiye Milli Pediatri Kongresi, BAFRA, Cyprus (Kktc), 30 October 2019, (Summary Text)
2019
201959. Karaciğer Nakil Öncesi ve Sonrası Aşılama:Üç Zor Olgu Serisi
GÖKÇAY E. G., KESKİNDEMİRCİ G., ÖNAL Z., YÜCEL E., AYDIN Y. Ş., BALCI M. C., et al.
Ulusal Sosyal Pediatri Sempozyumu, Turkey, 11 - 13 October 2019, (Full Text)
2019
201960. Karaciğer nakli öncesi ve sonrası aşılama:üç zor olgu serisi
KESKİNDEMİRCİ G., ÖNAL Z., YÜCEL E., BALCI M. C., DURMAZ Ö., GÖKÇAY E. G.
Ulusal sosyal pediatri sempozyumu, Eskişehir, Turkey, 11 - 13 October 2019, pp.70, (Summary Text)
2019
201961. The contribution of molecular genetic methods to the diagnosis of classical galactosemia and investigation of genotype-phenotype correlation
KALAY İ., BALCI M. C., Çağrı G., GÖKÇAY G. F., DEMİRKOL M., BAŞARAN S., et al.
52nd european Society of human Genetics (ESHS) Conference 2019, Gothenburg, Sweden, 15 - 19 June 2019, vol.27, pp.1174-1813, (Summary Text)
2019
201962. Glutaric Aciduria Type 1: Clinical, Biochemical Findings and Outcome of Thirty Eight Patients From a Single Center.
Güneş D., Güneş S., Balcı M. C., Selamioğlu A., Demirkol M., Gökçay G. F.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Netherlands, 3 - 06 September 2019, pp.164, (Summary Text)
2019
201963. Homocystinuria Due To Cystathionine Beta-Synthase Deficiency: Long-Term Follow-up Results of Thirty Five Patients.
Güneş S., Güneş D., Balcı M. C., Selamioğlu A., Demirkol M., Gökçay G. F.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Netherlands, 3 - 06 September 2019, pp.127, (Summary Text)
2019
201964. Carnitine palmitoyltransferase II (CPT-II) deficiency: Phenotypic implications of the common mutation S113l.
Çöllü M., Güneş S., Güneş D., Balcı M. C., Demirkol M., Gökçay G. F.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Netherlands, 3 - 06 September 2019, pp.195, (Summary Text)
2019
201965. Glycogen storage disease (GSD) type III: Clinical, biochemical, molecular features and outcome of 33 patients.
Güneş D., Korkmaz M., Güneş S., Balcı M. C., Demirkol M., Gökçay G. F.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Netherlands, 3 - 06 September 2019, pp.343, (Summary Text)
2019
201966. Clinical Presentation and Outcome in 16 Patients with Cobalamin C Defect.
Gökçay G. F., Balcı M. C., Güneş D., Güneş S., Selamioğlu A., Demirkol M.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Netherlands, 3 - 06 September 2019, pp.287, (Summary Text)
2019
201967. Cerebrotendinous Xanthomatosis: A diagnosis not to be missed.
Odacılar Alpay A., Güneş S., Karaca M., Güneş D., Balcı M. C., Hanağası H. A., et al.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Netherlands, 3 - 06 September 2019, pp.219, (Summary Text)
2019
201968. Psychiatric Disorders in Patients with Homocystinuria: Are they Really Frequent?
Güneş S., Seçkin M., Güneş D., Balcı M. C., Demirkol M., Gökçay G. F.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium , Rotterdam, Netherlands, 3 - 06 September 2019, pp.127-128, (Summary Text)
2019
201969. Carnitine Palmitoyl Transferase I Deficiency: Neurologic Involvement in the Course of the Disease.
Balcı M. C., Güneş S., Güneş D., Demirkol M., Gökçay G. F.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium , Rotterdam, Netherlands, 03 September 2019 - 06 December 2024, pp.193, (Summary Text)
2019
201970. BH4 Treatment in Phenylketonuria: Experience with Thirty Five Patients from a Single Center.
Selamioğlu A., Balcı M. C., Güneş D., Güneş S., Gökçay G. F., Demirkol M.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Netherlands, 3 - 06 September 2019, pp.115, (Summary Text)
2019
201971. Glycogen storage disease (GSD) type III: Anthropometric response to dietary treatment.
Hacıoğlu İ., Güneş D., Güneş S., Balcı M. C., Kozanoğlu T., Demirkol M., et al.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Rotterdam, Netherlands, 3 - 06 September 2019, pp.181, (Summary Text)
2019
201972. Citrin Deficiency: The Efficacy of Dietary Treatment
Dudaklı A., Balcı M. C., Güneş S., Güneş D., Kozanoğlu T., Hacıoğlu İ., et al.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.303-306, (Full Text)
2019
201973. Nonketotic Hyperglycinemia: Outcome of Patients from a Single Center
Güneş S., Güneş D., Balcı M. C., Demirkol M., Gökçay G. F.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.299-301, (Full Text)
2019
201974. Nutrition in Phenylketonuria – Information About Phenylketonuria
Balcı M. C.
International Inborn Errors of Metabolism and Nutrition Congress, İstanbul, Turkey, 10 - 14 April 2019, pp.24-25, (Full Text)
2019
201975. Lysinuric protein intolerance: Follow-up in pregnancy.
Çöllü M., Güneş D., Güneş S., Balcı M. C., Hacıoğlu İ., Demirkol M., et al.
International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Turkey, 10 - 14 April 2019, pp.537-538, (Summary Text)
2019
201976. Isobutyryl-coA dehydrogenase deficiency: a rare disease detectable by tandem mass spectrometry
Güneş D., İşeri Küskü Z. A., Güneş S., Balcı M. C., Demirkol M., Gökçay G. F.
International Inborn Errors of Metabolism and Nutrition Congress. , İstanbul, Turkey, 10 - 14 April 2019, pp.535-536, (Summary Text)
2019
201977. Coenzym Q-10 deficiency due to COQ4 gene defect.
Güneş D., Güneş S., Balcı M. C., Demirkol M., Gökçay G. F.
International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Turkey, 10 - 14 April 2019, pp.533-534, (Summary Text)
2019
201978. Glycogen storage disease type Ib and amyloidosis: A cause of Proteinuria.
Güneş D., Güneş S., Yürük Yıldırım Z. N., Balcı M. C., Demirkol M., Gökçay G. F.
International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Turkey, 10 - 14 April 2019, pp.292-294, (Summary Text)
2019
201979. L2- Hydroxyglutaric aciduria: Clinical and biochemical evaluation of 33 patients from a single center.
Bayraktar Eltutan N. C., Güneş S., Güneş D., Balcı M. C., Demirkol M., Gökçay G. F.
International Inborn Errors of Metabolism and Nutrition Congress. , İstanbul, Turkey, 10 - 14 April 2019, pp.295-298, (Summary Text)
2019
201980. Clinical and biochemical characterization of patients with 3-methylcrotonyl-CoA-carboxylase deficiency.
Güneş D., İşeri Küskü Z. A., Güneş S., Balcı M. C., Demirkol M., Gökçay G. F.
International Inborn Errors of Metabolism and Nutrition Congress. , İstanbul, Turkey, 10 - 14 April 2019, pp.284-287, (Summary Text)
2019
201981. Nonketotic hyperglycinemia: Outcome of patients from a single center.
Güneş S., Güneş D., Balcı M. C., Demirkol M., Gökçay G. F.
International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Turkey, 10 - 14 April 2019, pp.299-302, (Summary Text)
2019
201982. Familial Hypercholesterolemia: Factors associated with diagnosis and age at diagnosis in children.
Kavrul Kayaalp G., Balcı M. C., Güneş D., Güneş S., Demirkol M., Gökçay G. F.
International Inborn Errors of Metabolism and Nutrition Congress. , İstanbul, Turkey, 10 - 14 April 2019, pp.290-291, (Summary Text)
2019
201983. Citrin Deficiency: The efficacy of dietary treatment.
Dudaklı A., Balcı M. C., Güneş S., Güneş D., Kozanoğlu T., Hacıoğlu İ., et al.
International Inborn Errors of Metabolism and Nutrition Congress. , İstanbul, Turkey, 10 - 14 April 2019, pp.303-308, (Summary Text)
2019
201984. Glycogen storage disease type Ib and amyloidosis: A cause of Proteinuria.
GÜNEŞ D., GÜNEŞ S., YÜRÜK YILDIRIM Z. N., BALCI M. C., DEMİRKOL M., GÖKÇAY G. F.
International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Turkey, 10 - 14 April 2019, pp.292-294, (Full Text)
2019
201985. Glycogen Storage Disease Type Ib and Amyloidosis: A Cause of Proteinuria
Güneş D., GÜNEŞ S., YÜRÜK YILDIRIM Z. N., Balcı M. C., DEMİRKOL M., GÖKÇAY G. F.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.1-547, (Full Text)
2019
201986. Lysinuric protein intolerance: Follow-up in pregnancy.
ÇÖLLÜ ALÇINKAYA M., GÜNEŞ D., GÜNEŞ S., BALCI M. C., Hacıoğlu İ., DEMİRKOL M., et al.
International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Turkey, 10 - 14 April 2019, pp.537-538, (Summary Text)
2019
201987. Lysinuric Protein Intolerance: Follow-Up in Pregnancy
ÇÖLLÜ M., Güneş D., GÜNEŞ S., BALCI M. C., Yalmanbaş İ., DEMİRKOL M., et al.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.1-547, (Summary Text)
2019
201988. Familial Hypercholesterolemia: Factors Associated with Diagnosis and Age at Diagnosis in Children
Kavrul Kayaalp G., BALCI M. C., Güneş D., GÜNEŞ S., DEMİRKOL M., GÖKÇAY G. F.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.1-547, (Full Text)
2019
201989. Galaktokinase Deficiency: Missed Diagnosis in a Case with Early Presentation
KALAY İ., BALCI M. C., UYGUNER Z. O., DEMİRKOL M., GÖKÇAY G. F.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.1-547, (Summary Text)
2019
201990. Familial Hypercholesterolemia: Factors associated with diagnosis and age at diagnosis in children.
KAVRUL KAYAALP G., BALCI M. C., GÜNEŞ D., GÜNEŞ S., DEMİRKOL M., GÖKÇAY G. F.
International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Turkey, 10 - 14 April 2019, pp.290-291, (Full Text)
2019
201991. Clinical and biochemical characterization of patients with 3-methylcrotonyl-CoA-carboxylase deficiency.
GÜNEŞ D., İŞERİ KÜSKÜ Z. A., GÜNEŞ S., BALCI M. C., DEMİRKOL M., GÖKÇAY G. F.
International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Turkey, 10 - 14 April 2019, pp.284-287, (Full Text)
2019
201992. Clinical and Biochemical Characterization of Patients With 3-Methylcrotonyl-Coa- Carboxylase Deficiency
Güneş D., ISERI KUSKU Z., GÜNEŞ S., BALCI M. C., DEMİRKOL M., GÖKÇAY G. F.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.1-547, (Full Text)
2019
201993. Isobutyryl-Coa Dehydrogenase Deficiency: A Rare Disease Detectable by Tandem Mass Spectrometry
Güneş D., İŞERİ KÜSKÜ Z. A., GÜNEŞ S., BALCI M. C., DEMİRKOL M., GÖKÇAY G. F.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.1-547, (Summary Text)
2019
201994. Citrin Deficiency: The efficacy of dietary treatment.
Dudaklı A., BALCI M. C., GÜNEŞ S., GÜNEŞ D., KOZANOĞLU T., Hacıoğlu İ., et al.
International Inborn Errors of Metabolism and Nutrition Congress., İstanbul, Turkey, 10 - 14 April 2019, pp.303-308, (Full Text)
2019
201995. Evaluation Of The Phenylalanine Tolerance For Genotype-Phenotype Correlation in P.L48S Mutation For Phenylketonuria
Akın Uslu G., BALCI M. C., MUSLU M., GEDİKBAŞI A., GÖKÇAY G. F., DEMİRKOL M.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.1-547, (Full Text)
2019
201996. Nonketotic Hyperglycinemia:Outcome of Patients from a Single Center
GÜNEŞ S., Güneş D., BALCI M. C., DEMİRKOL M., GÖKÇAY G. F.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.1-547, (Full Text)
2019
201997. L2-Hydroxyglutaric Aciduria: Clinical and Biochemical Evaluation of 33 Patients from a Single Center
BAYRAKTAR ELTUTAN N. C., GÜNEŞ S., Güneş D., BALCI M. C., DEMİRKOL M., GÖKÇAY G. F.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, pp.1-547, (Full Text)
2019
201998. Clinical Spectrum of Mitochondrial Diseases
GEDİKBAŞI A., TOKSOY G., BALCI M. C., GÜNEŞ D., KORKMAZ L., GÖKÇAY G. F., et al.
13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 - 20 April 2019, vol.22, (Summary Text)
2018
201899. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: A potentially lethal disorder with a new mutation
GÜNEŞ S., AYGÜN F., ÇAKAR N. E., GÜNEŞ D., BALCI M. C., YEŞİL G., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2018, Greece, 4 September - 07 April 2018, (Summary Text)
2018
2018100. Glycogen storage disease type IB and amyloidosis: should we look out for this complication?
GÜNEŞ D., UĞURTAY B., GÜNEŞ S., ÇAKAR N. E., BALCI M. C., YÜRÜK YILDIRIM Z. N., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2018, Greece, 4 - 07 September 2018, (Summary Text)
2018
2018101. Ethylmalonic encephalopathy: Can liver transplantation be a treatment option?
BALCI M. C., GÜNEŞ D., GÜNEŞ S., ÇAKAR N. E., GÜLLER D., ÖNAL Z., et al.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Atina, Greece, 4 - 07 September 2018, (Summary Text)
2018
2018102. Ethylmalonic encephalopathy: Can liver transplantation be a treatment option?
BALCI M. C., GÜNEŞ D., GÜNEŞ S., ÇAKAR E. N., GÜLLER D., ÖNAL Z., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Greece, 4 - 07 September 2018, vol.41, pp.109, (Summary Text)
2018
2018103. Ethylmalonic encephalopathy: Can liver transplantation be a treatment option?.
Balcı M. C., Güneş D., Önal Z., Durmaz Ö., Gökçay G. F.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, , Athens, Greece, 4 - 07 September 2018, pp.109, (Full Text)
2018
2018104. Mitochondrial 3-hydroxy-3-methylglutaryl-coA synthase deficiency: a potentially lethal disorder with a new mutation.
Güneş S., Aygün F., Çakar N. E., Güneş D., Balcı M. C., Yeşil G., et al.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Athens, Greece, 4 - 07 September 2018, (Unpublished)
2018
2018105. Ethylmalonic encephalopathy: Can liver transplantation be a treatment option?
Balcı M. C., Güneş D., Güneş S., Çakar N. E., Güller D., Önal Z., et al.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Athens, Greece, 4 - 07 September 2018, (Unpublished)
2018
2018106. Glycogen storage disease type Ib and amyloidosis: Should we look out for this complication.
Güneş D., Uğurtay B., Güneş S., Çakar N. E., Balcı M. C., Yürük Yıldırım Z. N., et al.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Athens, Greece, 4 - 07 September 2018, pp.138-139, (Summary Text)
2018
2018107. Geç Tanı Erişkin Mukopolisakkaridozis Tip 1 Olgusu
ÇAKAR N. E., ÖZDAĞ ACARLI A. N., KARACA M., GÜNEŞ D., GÜNEŞ S., BALCI M. C., et al.
VI. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Turkey, 11 - 15 April 2018, (Summary Text)
2018
2018108. CRIM Negatif İnfantil Pompe Hastalığında İmmun Modülatör Tedavi
GÜNEŞ D., ÖZDEMİRCİOĞLU F., ÇAKAR N. E., GÜNEŞ S., BALCI M. C., DEMİRKOL M., et al.
VI. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Turkey, 11 - 15 April 2018, (Summary Text)
2018
2018109. CRIM Negatif İnfantil Pompe Hastalığında İmmun Modülatör Tedavi.
GÜNEŞ D., Özdemircioğlu F., ÇAKAR N. E., GÜNEŞ S., BALCI M. C., DEMİRKOL M., et al.
VI. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Antalya, Turkey, 11 - 15 April 2018, pp.97, (Summary Text)
2018
2018110. Üre döngüsü bozukluğu tanılı hastalarda retrospektif değerlendirme.
DURMUŞ GÖNÜLTAŞ Ö., ÇAKAR N. E., GÜNEŞ D., GÜNEŞ S., KOZANOĞLU T., BALCI M. C., et al.
40.Pediatri Günleri ve 19. Pediatri Hemşireliği Günleri, İstanbul, Turkey, 8 - 11 April 2018, pp.11-12, (Summary Text)
2018
2018111. Türkiye’deki Galaktozemi Olgularında Saptanan Dört Yeni Mutasyonu ile GALT Mutasyon Spektrumu
KALAY İ., BALCI M. C., GÜLEÇ Ç., AVCI Ş., TOKSOY G., GÖKÇAY G. F., et al.
ERCIYES MEDICAL GENETICS DAYS, Turkey, 7 - 10 March 2018, (Summary Text)
2018
2018112. GALT mutation spectrum including four novel alterations in Turkish Cases With Galactosemia
Kalay İ., Balcı M. C., Güleç Ç., Avcı Ş., Toksoy G., Gökçay G. F., et al.
Erciyes Medical Genetics Days 2018, Kayseri, Turkey, 7 - 10 March 2018, vol.1, no.1, pp.46, (Summary Text)
2017
2017113. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
BALCI M. C., GÖKÇAY G. F., DEMİRKOL M., KALKAN UÇAR S., ÇOKER M.
ICIEM 2017 13th International Congress of Inborn Errors of Metabolism, 5 - 08 September 2017, (Summary Text)
2017
2017114. Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase ( beta ketothiolase, MAT ) deficiency.
ÇOKER M., KALKAN UÇAR S., GÖKÇAY G. F., BALCI M. C., DEMİRKOL M.
ICIEM 2017 13th International Congress of Inborn Errors of Metabolism, 5 - 08 September 2017, (Summary Text)
2017
2017115. Systemic carnitine deficiency: Impact of treatment on clinical and biochemical features in 32 patients
BALCI M. C., DEMİRKOL M., ÖZGÜL R. K., DURSUN A., GÖKÇAY G. F.
13th International Congress of Inborn Errors of Metabolism, Rio de Janeiro, Brazil, Journal of Inborn Errors of Metabolism and Screening, special supplement with the abstracts, 5 - 08 September 2017, vol.5, (Summary Text)
2017
2017116. HEPATOCELLULAR DEVELOPMENT IN OUR PATIENTS DIAGNOSED WITH TYROZINEMIA TYPE 1 CARCINOMA AND OTHER COMPLICATIONS
Güneş S., Karaca M., Balcı M. C., Çakar N. E., Güneş D., Demirkol M., et al.
14: ulusal metabolik hastalııklar ve beslenme kongresi , Muğla, Turkey, 26 - 30 April 2017, pp.19-20, (Summary Text)
2017
2017117. Tirozinemi Tip 1 Tanılı Hastalarımızda Karaciğer Transplantasyonu Endikasyonları ve Post-transplant İzlem
GÜNEŞ S., KARACA M., BALCI M. C., ÇAKAR N. E., GÜNEŞ D., CANTEZ M. S., et al.
XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017, (Summary Text)
2017
2017118. Tirozinemi Tip 1 Tanılı Hastalarımızda Gelişen Hepatosellüler Karsinom ve Diğer Komplikasyonlar.
GÜNEŞ S., KARACA M., BALCI M. C., ÇAKAR N. E., GÜNEŞ D., DEMİRKOL M., et al.
14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, (Summary Text)
2017
2017119. İstanbul Tıp Fakültesi Çocuk Beslenme ve Metabolizma Polikliniği X-ALD Hastalarının Klinik ve Nöroradyolojik Bulguları
YILDIZ M., KARACA M., Balcı M. C., DEMİRKOL M., GÖKÇAY G. F.
39. Pediatri Günleri 18. Pediatri Hemşireliği Günleri, Levent-İstanbul, Turkey, 2 April - 05 December 2017, (Summary Text)
2016
2016120. Cerebrotendinous Xanthomatosis: Response to Treatment in Late Diagnosed Cases
KARACA M., BALCI M. C., ÇAKAR N. E., DEMİRKOL M., GÖKÇAY G. F.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2016, Italy, 6 - 09 September 2016, (Summary Text)
2016
2016121. Biotinidase deficiency: evaluation of patients diagnosed with newborn screening
DEMİRKOL M., ÇAKAR N. E., BAŞ K., KARACA M., BALCI M. C., GÖKÇAY G. F.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2016, Italy, 06 September 2016, (Summary Text)
2016
2016122. Clinical and Neuroradiological Findings of X-ALD Patients
YILDIZ M., KARACA M., BALCI M. C., ÇAKAR N. E., DEMİRKOL M., GÖKÇAY G. F.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2016, Italy, 06 September 2016, (Summary Text)
2016
2016123. Maple syrup urine disease in the Marmara region of Turkey
BALCI M. C., KARACA M., ZÜBARİOĞLU T., ÖZER I., DORUM S., DEMİRKOL M., et al.
SSİEM 2016, ROMA, Italy, 06 September 2016, (Full Text)
2016
2016124. Maple syrup urine disease consensus for nutritional treatment from the Marmara region of Turkey
Sağlam T., Balcı M. C., KARACA M., ZÜBARİOĞLU T., Özer I., DORUM S., et al.
SSIEM 2016 Annual Symposium, Roma İtalya, Rome, Italy, 6 - 09 September 2016, vol.39, pp.35-284, (Summary Text)
2016
2016125. Gaucher Hastalarında Klinik Bulgular ve Enzim Yerine Koyma Tedavisine Yanıt
KARACA M., ÇAKAR N. E., BALCI M. C., DEMİRKOL M., GÖKÇAY G. F.
V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Turkey, 14 - 17 April 2016, (Summary Text)
2016
2016126. Enzim Replasman Tedavisi Alan Mukopolisakkaridoz Tip 6 Tanılı Hastalarımızın Değerlendirilmesi
GÜNEŞ D., BALCI M. C., ÇAKAR N. E., KARACA M., GÖKÇAY G. F., DEMİRKOL M.
V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Turkey, 14 - 17 April 2016, (Summary Text)
2016
2016127. Enzim Replasman Tedavisi Alan Mukopolisakkaridoz Tip 6 Tanılı Hastalarımızın Değerlendirilmesi.
GÜNEŞ D., BALCI M. C., ÇAKAR N. E., KARACA M., GÖKÇAY G. F., DEMİRKOL M.
5. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Muğla, Turkey, 14 - 17 April 2016, (Summary Text)
2015
2015128. Profound biotinidase deficiency: natural course of the disease and impact of treatment in adult patients.
Demirkol M., Çakar N. E., Güneş D., Karaca M., Balcı M. C., Türkoğlu Ü., et al.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Lyon, France, 1 - 04 September 2015, pp.164, (Summary Text)
2015
2015129. Profound biotinidase deficiency: natural course of the disease and impact of treatment in adult patients
DEMİRKOL M., ÇAKAR N. E., GÜNEŞ D., KARACA M., BALCI M. C., TÜRKOĞLU Ü., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2015, France, 01 September 2015, (Summary Text)
2015
2015130. Profound biotinidase deficiency: natural course of the disease and impact of treatment in adult patients.
DEMİRKOL M., ÇAKAR N. E., GÜNEŞ D., KARACA M., BALCI M. C., MUTLU Ü. D., et al.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Lyon, France, 1 - 04 September 2015, pp.164, (Summary Text)
2015
2015131. İzovalerik asidemide annesütü uygulaması vaka sunumu
sağlam t., Balcı M. C., Karaca M., Yeşil A., DEMİRKOL M., GÖKÇAY G. F.
13. ULUSAL METABOLİK HASTALIKLAR VE BESLENME KONGRESİ, Turkey, 14 - 18 April 2015
2015
2015132. Progressif Familyal İntrahepatik Kolestaz Tip 2 (PFIC2) Vaka Sunumu.
GÜNEŞ D., BALCI M. C., KARACA M., UNCUOĞLU A., DEMİRKOL M., GÖKÇAY G. F.
XIII. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015, pp.332, (Summary Text)
2015
2015133. Kolestaz, iktiyoz ve tubulopati bulguları olan bir vakada peroksizomal D-bifonksiyonel protein eksikliği.
KARACA M., BALCI M. C., KARAGÖZLÜ F., GÜNEŞ D., DEMİRKOL M., GÖKÇAY G. F.
XIII. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015, pp.290, (Summary Text)
2015
2015134. Pompe Hastalığı Tanısı Alan Vakaların Değerlendirilmesi.
GÜNEŞ D., BALCI M. C., KARACA M., DEMİRKOL M., GÖKÇAY G. F.
XIII. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015, pp.275, (Summary Text)
2015
2015135. Paroksismal ataksi ve işitme kaybı ile başvuran geç başlangıçlı Akçaağaç Şurubu İdrarı Hastalığı (MSUD) vakası.
GÜNEŞ D., KARACA M., BALCI M. C., KOZANOĞLU T., YAPICI OBUZ Z., MUTLU Ü. D., et al.
37. Pediatri Günleri ve 16. Pediatri Hemşireliği Günleri, İstanbul, Turkey, 8 - 11 April 2015, pp.215, (Summary Text)
2014
2014136. Ağır demir eksikliği anemisi, bezoar ve glikojen depo hastalığı
VARKAL M. A., YILDIZ İ., KAVRUL G., GÜNHAR S., UYSALOL M., KARAMAN S., et al.
50. Türk Pediatri kongresi, Antalya, Turkey, 26 - 30 May 2014, (Full Text)
2014
2014137. Nöbet ve bilinç bulanıklığı ile başvuran propiyonik asidemi vakası
GEDİK S., YILDIZ İ., VARKAL M. A., AKSU UZUNHAN T., ŞIK G. S., BALCI M. C., et al.
36. Pediatri Günleri ve 15. Pediatri Hemşireliği Günleri, İstanbul, Turkey, 8 - 11 April 2014, (Full Text)
2014
2014138. Nöbet ve bilinç bulanıklığı ile başvuran propiyonik asidemi vakası
GEDİK S., YILDIZ İ., VARKAL M. A., AKSU UZUNHAN T., SARE ŞIK G., BALCI M. C., et al.
36.PEDİATRİ GÜNLERİ ve 15.PEDİATRİ HEMŞİRELİĞİ GÜNLERİ, Turkey, 8 - 11 April 2014, (Summary Text)
2013
2013139. Clinical and Biochemical Evaluation of 27 Patients with Multiple Acyl-CoA Dehydrogenase Defıciency
BALCI M. C., ERSOY M., DEMİRKOL M., GÖKÇAY G. F.
12th International Congress of Inborn Errors of Metabolism-Spain, 3 - 06 September 2013, (Summary Text)
2013
2013140. Gaucher Type 3 with Severe Neutropenia Under Enzyme Replacement Therapy
ERSOY M., BALCI M. C., DEMİRKOL M., DEVECİOĞLU Ö., GÖKÇAY G. F.
12th International Congress of Inborn Errors of Metabolism-Spain, 3 - 06 September 2013, (Summary Text)
2012
2012141. Maple Syrup Urine Disease: Use of Leucine Free Medical Foods and Amino Acid Supplements in Dietary Treatment
ÇAKIR BİÇER N., TUNCER S., BALCI M. C., ERSOY M., DEMİRKOL M., GÖKÇAY G. F.
2012 Annual Symposium of the Society for the Study of Inborn Errors of Metabolism-United Kingdom, 4 - 07 September 2012, (Summary Text)
2012
2012142. OCTN2 Gene Mutations in Turkish Patients with Primary Carnitine Deficiency
YÜCEL YILMAZ D., ERSOY M., CANDAN Ş., BALCI M. C., KILIÇ M., GÖKÇAY G. F., et al.
2012 Annual Symposium of the Society for the Study of Inborn Errors of Metabolism-United Kingdom, 4 - 07 September 2012, (Summary Text)
2012
2012143. α-Methyl-CoA Racemase Deficiency: Report of A New Mutation and Response To Treatment in A Patient with Neonatal Cholestatic Liver Disease and Attention Deficit Hyperactivity Disorder
ERSOY M., ÇAKIR BİÇER N., BALCI M. C., DEMİRKOL M., GÖKÇAY G. F.
2012 Annual Symposium of the Society for the Study of Inborn Errors of Metabolism-United Kingdom, 4 - 07 September 2012, (Summary Text)
2012
2012144. Congenital Disorders of Glycosylation Type IA: Are Vacuolated Peripheral Blood Cells A Diagnostic Clue?
ERSOY M., BALCI M. C., ÖZGÜVEN A. A., ÜNÜVAR A., MATTHIJS G., JAEKEN J., et al.
2012 Annual Symposium of the Society for the Study of Inborn Errors of Metabolism-United Kingdom, 4 - 07 September 2012, (Summary Text)
2012
2012145. Maple syrup urine disease use of leucine free medical foods and amino acid supplements in dietary treatment
ÇAKIR BİÇER N., Tuncer Ş., BALCI M. C., ERSOY M., DEMİRKOL M., GÖKÇAY G. F.
Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium 2012, England, 1 - 04 September 2012, (Summary Text)
2012
2012146. Zelweger Sendromu Olgu Sunumu
GÖKÇEER D., YILDIZ İ., KILIÇ A., ERSOY M., BALCI M. C., ÜNÜVAR E., et al.
34. Pediatri Günleri ve 13. Pediatri Hemşireliği Günleri, İstanbul, Turkey, 3 - 06 April 2012, (Summary Text)
2012
2012147. Zellweger Sendromu Olgu Sunumu
GÖKÇEER D., YILDIZ İ., KILIÇ A., ERSOY M., BALCI M. C., ÜNÜVAR E., et al.
34. Pediatri Günleri-İstanbul, 3 - 06 April 2012, (Summary Text)
2012
2012148. Metabolik Hastalıklara Tanısal Yaklaşımda Beslenmenin Değerlendirilmesi: Fruktoz -1,6- Difosfataz Eksikliği Olgusu
ALİYEV B., ERSOY M., BALCI M. C., GÖKÇAY G. F., DEMİRKOL M.
34. Pediatri Günleri-İstanbul, 3 - 06 April 2012, (Summary Text)
2011
2011149. The Cardiac Manifestation and Responsetol-Carnitine Treatment in 14 Cases with Primary Systemic Carnitine Deficiency: Correlation with Genotype
BALCI M. C., YÜCEL D., ERGÜL Y., ÖZGÜL R. K., BAYKAL T., AKTUĞLU ZEYBEK A. Ç., et al.
2011 Annual Symposium of the Society for the Study of Inborn Errors of Metabolism-Switzerland, 30 August - 02 September 2011, (Summary Text)
2011
2011150. Kas (İskelet Kası-Kalp Kası)/Nörolojik Tutulumu Olan Hasta (Yağ Asit Metabolizma Bozuklukları-I Paneli)
GÖKÇAY G. F., BALCI M. C., ERSOY M.
Uluslararası Katılımlı XI. Metabolik Hastalıklar ve Beslenme Kongresi-İzmir, 14 - 16 April 2011, (Summary Text)
Books
2025
20251. VAKA 30 Solukluk, halsizlik, karın şişliği şikayetleri ile başvuran çocuk
YILDIZ İ., KILIÇ A., Sarıhan T., ÖZÇETİN M., BALCI M. C., KARACA M., et al.
in: "ÇAPA ÇOCUK" Sabah Vaka Arşivleri -II, ÇOBAN EMİNE ASUMAN, SOMER AYPER, ÜNÜVAR AYŞEGÜL, ALTINEL ZEYNEP ÜLKER, Editor, Ankara Nobel Tıp Kitabevleri, Ankara, pp.251-260, 2025
2025
20252. Hiperfenilalaninemiler
BALCI M. C., GÖKÇAY G. F.
in: Tüm Yönleriyle Pediatri, TAŞTEKİN AYHAN, OLGUN HAŞİM, Editor, Anadolu Kitabevi, Ankara, pp.2413-2418, 2025
2025
20253. VAKA 10 Kusma, beslenememe, ateş şikayetleri olan süt çocuğu
Gençay G., BALCI M. C., GÖKÇAY G. F., DEMİRKOL D.
in: "Çapa Çocuk"Sabah Vaka Arşivleri-II, ÇOBAN EMİNE ASUMAN, SOMER AYPER, ÜNÜVAR AYŞEGÜL, ALTINEL ZEYNEP ÜLKER, Editor, Ankara Nobel Tıp Kitabevleri, Ankara, pp.81-88, 2025
2025
20254. Solukluk, halsizlik ve karın şişliği şikayetleriyle başvuran çocuk
YILDIZ İ., KILIÇ A., SARIHAN T., ÖZÇETİN M., BALCI M. C., KARACA M., et al.
in: “Çapa Çocuk” Sabah Vaka Arşivleri-II, ÇOBAN EMİNE ASUMAN, SOMER AYPER, ÜNÜVAR AYŞEGÜL, ALTINEL ZEYNEP ÜLKER, Editor, Ankara Nobel Tıp Kitabevleri, Ankara, pp.251-260, 2025
2025
20255. VAKA 14 Tekrarlayan dengesiz yürüme, ensefalopati yakınmalarıyla başvuran, kardiyak arrest geçiren çocuk
Durmuş A., BALCI M. C., Kürkçü D., ASLANGER A. D., GÖKÇEER D., GÖKÇAY G. F.
in: "ÇAPA ÇOCUK" Sabah Vaka Arşivleri -II, ÇOBAN EMİNE ASUMAN, SOMER AYPER, ÜNÜVAR AYŞEGÜL, ALTINEL ZEYNEP ÜLKER, Editor, Ankara Nobel Tıp Kitabevleri, Ankara, pp.115-122, 2025
2024
20246. Mucopolysaccharidosis Type VI
Balcı M. C., Gökçay G. F.
in: Mucopolysaccharidoses and Oligosaccharidoses, Mehmet GÜNDÜZ, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.28-34, 2024
2024
20247. Ketogenic diets and childhood epilepsy
Balcı M. C.
in: Pediatric epileptology, selçuk apak,burak tatlı, Editor, Nobel Tıp Kitapevi, İstanbul, pp.310-326, 2024
2024
20248. Follow-up of the child with phenylketonuria and care in the community
Balcı M. C., Gökçay G. F.
in: Follow-up and Community Care of a Child with a Chronic Disease, Emine Gülbin GÖKÇAY,Gonca KESKİNDEMİRCİ, Editor, Istanbul University, İstanbul, pp.199-210, 2024
2024
20249. The nutrition education of the children
Gökçay G. F., Balcı M. C., Kozanoğlu T.
in: Developmental Education in Children, Selman Yılmaz,Birce Aslandoğan, Editor, Istanbul University, İstanbul, pp.124-135, 2024
2024
202410. Mukopolisakkaridoz Tip VI
BALCI M. C., GÖKÇAY G. F.
in: Mukopolisakkaridoz ve Oligosakkaridozlar, GÜNDÜZ MEHMET, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.28-34, 2024
2024
202411. Fenilketonürisi olan çocuğun izlemi ve toplumda bakımı
BALCI M. C., GÖKÇAY G. F.
in: Kroni̇k Hastalığı Olan Çocuğun İzlemi̇ ve Toplumda Bakımı, GÖKÇAY EMİNE GÜLBİN, KESKİNDEMİRCİ GONCA, Editor, Istanbul University, İstanbul, pp.199-210, 2024
2024
202412. Nutrition Education in Children
GÖKÇAY G. F., BALCI M. C., KOZANOĞLU T.
in: Developmental Education in Children, YILMAZ SELMAN, ARSLANDOĞAN BİRCE, Editor, İstanbul Üniversitesi Yayınevi, İstanbul, pp.123-138, 2024
2023
202313. Çapa Çocuk" Sabah Vaka Arşivleri –I
Durmuş A., Karaca M., Balcı M. C., Selamioğlu A., Körbeyli H. K., Hüseynli P., et al.
Nobel Tıp Kitapevi, Ankara, 2023
2023
202314. Çapa Çocuk" Sabah Vaka Arşivleri –I
Kahraman Güzel H., Körbeyli H. K., Balcı M. C., Demirkol D., Gökçay G. F.
Nobel Tıp Kitapevi, Ankara, 2023
2023
202315. Nutritional Treatment in Hereditary Metabolic Diseases
Balcı M. C., Kozanoğlu T., Gökçay G. F.
Orient Yayınları, Ankara, 2023
2023
202316. "Çapa Çocuk" Sabah Vaka Arşivleri-I
Balcı M. C., Karaca M., Pempegül Yıldız E., Demirkol D., Gökçay G. F.
in: "Çapa Çocuk" Sabah Vaka Arşivleri-I , Asuman Çoban,Demet Demirkol,Alev Yılmaz,Nuray Aktay Ayaz, Editor, Nobel Tıp Kitapevi, Ankara, pp.31-37, 2023
2023
202317. "Çapa Çocuk" Sabah Vaka Arşivleri-I
Kahraman H., Körbeyli H. K., Balcı M. C., Demirkol D., Gökçay G. F.
in: "Çapa Çocuk" Sabah Vaka Arşivleri-I, Asuman Çoban,Demet Demirkol,Alev Yılmaz,Nuray Aktay Ayaz, Editor, Nobel Tıp Kitapevi, Ankara, pp.21-30, 2023
2023
202318. Konjenital Glikozilasyon Defekti: Hafif Klinik Seyirli İki Olgu
AK B., KARACA M., BALCI M. C., SELAMİOĞLU A., Körbeyli H. K., Durmuş A., et al.
in: Türkiye Klinikleri- Bilimsel Oturumlar- Özel- Konjenital Glikozilasyon Bozuklukları - Congenital Glycosylation Disorders- Çocuk Metabolizma Hastalıkları Akademisi CMAK - 2023, Önal Uzun Özlem, Editor, Türkiye Klinikleri, Ankara, pp.92-93, 2023
2023
202319. Vaka 4
KAHRAMAN H., Körbeyli H. K., BALCI M. C., DEMİRKOL D., GÖKÇAY G. F.
in: Çapa Çocuk Sabah Vaka Arşivleri I, Çoban Asuman, Demirkol D, Yılmaz A, Ayaz Aktay N, Editor, Ankara Nobel Tıp Kitapevi, pp.21-30, 2023
2023
202320. Vaka 5 - Huzursuzluk ve Sakinleştirilemeyen ağlama yakınması olan yenidoğan
BALCI M. C., KARACA M., Pembegül Yıldız E., DEMİRKOL D., GÖKÇAY G. F.
in: "Çapa Çocuk" Sabah Vaka Arşivleri -I, DEMİRKOL DEMET, YILMAZ ALEV, AKTAY AYAZ NURAY, Editor, Ankara Nobel Tıp Kitabevleri, Ankara, pp.31-38, 2023
2023
202321. Vaka 5
BALCI M. C., KARACA M., PEMPEGÜL YILDIZ E., DEMİRKOL D., GÖKÇAY G. F.
in: Çapa Çocuk Sabah Vaka Arşivleri I, Çoban Asuman, Demirkol D, Yılmaz A, Ayaz Aktay N, Editor, Ankara Nobel Tıp Kitapevi, pp.31-38, 2023
2023
202322. Vaka 3 - Halsizlik ve güçsüzlük yakınmaları olan süt çocuğu
Durmuş A., KARACA M., BALCI M. C., Selamioğlu A., Körbeyli H. K., Hüseynli P., et al.
in: "Çapa Çocuk" Sabah Vaka Arşivleri -I, DEMİRKOL DEMET, YILMAZ ALEV, AKTAY AYAZ NURAY, Editor, Ankara Nobel Tıp Kitabevleri, Ankara, pp.13-20, 2023
2022
202223. Tamamlayıcı beslenmeye güncel bakış
BALCI M. C., GÖKÇAY G. F.
in: Genel Pediyatri- Pediyatrinin Temel Taşları, Fatma Oğuz, Editor, Ema Tıp Kitabevi, İstanbul, pp.73-100, 2022
2021
202124. Neurometabolic Strokes in Childhood
Balcı M. C.
in: Stroke in Childhood, NUR AYDINLI,TUĞÇE AKSU UZUNHAN, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.14-20, 2021
2021
202125. Mitokondriyal ve Diğer Enerji Metabolizması Bozuklukları
Balcı M. C., Kozanoğlu T., Gökçay G. F.
in: Kalıtsal Metabolik Hastalıklarda Beslenme Tedavisi, Eminoğlu,Fatma Tuğba; Haspolat,Yusuf Kenan; Çeltik,Çoşkun; Çarman,Kürşat Bora; Akbulut,Ulaş Emre; Taş,Taşkın, Editor, Orient Yayınları, Ankara, pp.619-640, 2021
2021
202126. COVID-19 ve Doğumsal Metabolizma Hastalıkları
Durmuş A., Karaca M., Balci M. C., Selamioğlu A., Körbeyli H. K., Gökçay G. F.
in: Çocuklarda Her Yönüyle COVID-19, Demirkol D,Karacabey BN,Karakaş Z., Editor, Selen Yayınevi, İstanbul, pp.259-268, 2021
2021
202127. MİTOKONDRİYAL ve DİĞER ENERJİ METABOLİZMASI BOZUKLUKLARI: UZUN ZİNCİRLİ YAĞ ASİDİ OKSİDASYON BOZUKLUKLARI ve BESLENME TEDAVİSİ
BALCI M. C., Kozanoğlu T., GÖKÇAY G. F.
in: Kalıtsal Metabolik Hastalıklarda Beslenme Tedavisi, Eminoğlu Fatma Tuğba, Haspolat Yusuf Kenan, Çeltik Coşkun, Çarman Kürşat Bora, Akbulut Ulaş Emre, Taş Taşkın, Editor, Orient Yayınları, Ankara, pp.621-642, 2021
2020
202028. Inborn errors of metabolic disease
Demirkol M., Gökçay G. F., Balcı M. C.
in: Pediatric, Olcay Neyzi,Türkan Ertuğrul,Feyza Darendeliler, Editor, Nobel Tıp Kitapevi, İstanbul, pp.1003-1134, 2020
2020
202029. XI. Bölüm Metabolizma Hastalıkları: 1. Doğumsal Metabolizma Hastalıklarına Yaklaşım
DEMİRKOL M., BALCI M. C., GÖKÇAY G. F.
in: Pediyatri, Olcay Neyzi, Türkan Ertuğrul, Feyza Darendeliler, Editor, Nobel Tıp Kitapevleri, İstanbul, pp.1003-1014, 2020
2020
202030. Bölüm 27: Çocukta Metabolizma Hastalıkları Semiyolojisi
BALCI M. C., GÖKÇAY G. F.
in: PEDİYATRİK SEMİYOLOJİ, Fatma Oğuz, Editor, Ema Tıp Kitapevi, İstanbul, pp.343-355, 2020
2020
202031. XI. Bölüm Metabolizma Hastalıkları: 11. Nörotransmitter Bozuklukları
BALCI M. C., GÖKÇAY G. F.
in: PEDİYATRİ, Olcay Neyzi, Türkan Ertuğrul, Feyza Darendeliler, Editor, Nobel Tıp Kitapevleri, İstanbul, pp.1125-1128, 2020
2018
201832. Karbonhidrat Metabolizması Hastalıkları
BALCI M. C., DEMİRKOL M.
in: Yurdakök Pediatri, Murat Yurdakök; Turgay Coşkun, Editor, Güneş Tıp Kitabevi, İstanbul, pp.146-181, 2018
2018
201833. Çocukta metabolizma hastalıkları semiyolojisi
BALCI M. C., GÖKÇAY G. F.
in: Pediyatrik Semiyoloji, Fatma Oğuz, Editor, İstanbul Tıp Kitabevleri, İstanbul, pp.323-334, 2018
2016
201634. Rapid Desensitization for immediate hypersensitivity to Galsulfase therapy in patients with MPS VI
TAMAY Z. Ü., GÖKÇAY G. F., DİLEK F., BALCI M. C., Ozceker D., DEMİRKOL M., et al.
in: JIMD Reports, Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V, Editor, Springer, pp.53-57, 2016
2016
201635. Çocukta Metabolizma Hastalıkları Semiyolojisi
Balcı M. C., GÖKÇAY G. F.
in: Pediyatrik Semiyoloji, Fatma Oğuz, Editor, İstanbul Tıp Kitabevi, İstanbul, pp.266-276, 2016
2015
201536. Fatty Acid Oxidation Disorders and Lipid Storage Diseases
Balcı M. C., Nişli K.
in: Cardiac Involvement in Pediatric Systemic Diseases, Nazmi Narin, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.40-45, 2015
Expert Reports
2023
20231. ÖMER KARTAL ÖZTÜRK BİLİRKİŞİ
Yaşa B., Balcı M. C.
İSTANBUL TIP FAKÜLTESİ, pp.2, İstanbul, 2023
Funded Projects
2024 - Present
2024 - PresentKalıtsal Metabolizma Hastalıklarında Metabolomik ve Lipidomik Profilleme ile Laboratuvarda Geliştirilen Testler
Project Supported by Higher Education Institutions , University Supported Other Projects
GEDİKBAŞI A. (Executive), DENİZ N. G., ÇOLAK AKTAŞ Ü., BALCI M. C., KILIÇ Ş., KARACA M., et al.
2023 - 2027
2023 - 2027Uzun zincirli yağ asidi oksidasyon bozukluğu (LC-FAOD) olan Pediatrik hastalardaki, Majör Klinik Olaylarda (MCE’ler) Çift Zincirli, Orta zincirli Trigliseridlerle (MTC’ler) karşılaştırıldığında Triheptanoin’nin etkisinin belirlendiği Çok Merkezli, Çift Kör, Randomize Çalışma
Project Supported by Private Organizations in Other Countries
Gökçay G. F., Karaca M., Balcı M. C., Kozanoğlu T.
2024 - 2026
2024 - 2026A phase 3, multicenter, multinational, randomized, doubleblind, double-dummy, active-comparator study to evaluate the efficacy and safety of venglustat in adult and pediatric patients with Gaucher disease Type 3 (GD3) who have reached therapeutic goals with Enzyme Replacement Therapy (ERT)
Industrial Organizations of Other Countries Supported Project
(Project Abstract)
Balcı M. C. (Executive), Gökçay G. F., Karaca M., Aktaş Ü.
2023 - 2025
2023 - 2025Gaucher, Fabry, Pomp eve Mukopolisakkaridoz Tip 1 hastalıklarının yeni nesil dizileme desteğiyle taranarak bu lizozomal depo hastalıklarının riskli gruplarda görülme sıklığının tespit edilmesi: Big Data Pilot Tarama
Company
Balcı M. C.
2023 - 2025
2023 - 2025ARDIŞIK KÜTLE SPEKTROMETRİSİ İLE GENİŞLETİLMİŞ YENİDOĞAN TARAMASINDA İKİNCİ BASAMAK MOLEKÜLER AYIRICI TANI İÇİN ÜÇÜNCÜ YENİ NESİL DİZİLEME TEKNOLOJİSİ KULLANILARAK KİT GELİŞTİRME
Project Supported by Higher Education Institutions , University Supported Other Projects
(Project Abstract)
GÖKÇAY G. F. (Executive), DURMUŞ A., PAZHOUHESH R., SÖYLEMEZ S., TEKER B., ATALAR F., et al.
2022 - 2025
2022 - 2025TUBITAK Project , 1001 - Program for Supporting Scientific and Technological Research Projects
(Project Abstract)
Selamioğlu A., Canlı M., Karaca M. (Executive), Balcı M. C., Gökçay G. F., Yeşil A., et al.
2022 - 2025
2022 - 2025Hemoglobinopatilerde Okside Hemoglobin ve Mitokondriyal Hasar İlişkili Moleküler Paternler DAMPs ve NAD ile Antioksidanların İnvitro Potansiyel Terapötik Etkileri
Project Supported by Higher Education Institutions , BAP Other
KARAKAŞ Z. (Executive), ÖZBEÖZ O., TANYILDIZ H. G., GÖKÇAY G. F., ÖZHAN G., GEDİKBAŞI A., et al.
2020 - 2025
2020 - 2025Horizon Baby Porject for Rare Disease Diagnosis by Using Newborn Screening and Digital Technologies
H2020 Project , H2020 Research Infrastructures Project
Yeşil Sayın G., Atalar F., Gökçay G. F. (Executive), Balcı M. C.
2022 - 2024
2022 - 2024Lizozomal Depo Hastalıklarında Enzimatik Tanı Yöntemlerinin Kurulması Optimizasyonu ve Validasyonu
Project Supported by Higher Education Institutions , BAP Research Project
GEDİKBAŞI A. (Executive), AYDOĞDU P., GÖKÇAY G. F., AYDIN A. F., BALCI M. C., KARACA M., et al.
2020 - 2024
2020 - 2024Fenilalanin Hidroksilaz (PAH) Enzim Eksikliğine veya Yokluğuna Bağlı Hiperfenilalaninemili Hastaların Retrospektif ve Prospektif Olarak Takip, Tedavi ve İzlemlerinin Yapıldığı Çok Merkezli Kayıt Çalışması
Project Supported by Other Private Institutions
Balcı M. C.
2021 - 2023
2021 - 2023Beslenme Tedavisi Uygulanan Kalıtsal Metabolizma Hastalıklarında Bulaşıcı Olmayan Kronik Hastalıklar Açısından Risk Faktörlerinin Değerlendirilmesi ve Çözüm Önerileri
Project Supported by Higher Education Institutions , BAP PhD
GÖKÇAY G. F. (Executive), BALCI M. C.
2019 - 2023
2019 - 2023Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 (ELIKIDS)Tip l ve Tip 3 Gaucher hastalığma sahip pediyatrik hastalarda eliglustatın farmakokinetik, güvenlilik ve etkililifiini değerlendiren açık etiketli, iki kohortlu (imigluserazla birlikte olan ve olmayan), çok merkezli çalışma, EFC13738
Other International Funding Programs
Gökçay G. F. (Executive), Balcı M. C.
2021 - 2022
2021 - 2022Gaucher Hastalığı Olan Bireylerde Taligluseraz Alfa Tedavisi Türkiye Deneyiminin Belirlenmesi Çalışması – Taligluseraz Alfa- Türkiye Deneyimi
Project Supported by Other Private Institutions
Gökçay G. F. (Executive), Balcı M. C.
2020 - 2022
2020 - 2022Two part (double-blind inclisiran versus placebo [Year 1]followed by open-label inclisiran [Year 2]) randomizedmulticenter study to evaluate safety, tolerability, andefficacy of inclisiran in adolescents (12 to less than 18years) with heterozygous familial hypercholesterolemiaand elevated LDL-cholesterol (ORION-16)
Other International Funding Programs
Gökçay G. F. (Executive), Karaca M., Balcı M. C.
2019 - 2022
2019 - 2022Study B3031002: A Multicenter, Multicountry Postmarketing Active Surveillance Taliglucerase Alfa Registry inPatients with Gaucher Disease
Other International Funding Programs
Gökçay G. F., Balcı M. C.
2019 - 2020
2019 - 2020IQVIA_KALEIDO_Faz2_Üre Döngüsü Bozukluğu Çalışması
Other International Funding Programs
Karaca M., Gökçay G. F., Balcı M. C.
Peer Reviews in Scientific Publications
June 2024
June 2024JOURNAL OF ENDOCRINOLOGY AND METABOLISM
Journal Indexed in SCI-E
March 2024
March 2024Turkish medical student journal
National Scientific Refreed Journal
September 2023
September 2023İstanbul Üniversitesi İstanbul Tıp Fakültesi Mecmuası
National Scientific Refreed Journal
September 2023
September 2023Archives of the Turkish Society of Cardiology
National Scientific Refreed Journal
January 2023
January 2023Çocuk Dergisi
National Scientific Refreed Journal
January 2023
January 2023JOURNAL OF PEDIATRIC ENDOCRINOLOGY AND METABOLISM
Journal Indexed in SCI-E
Scientific Consultations
2023 - Present
2023 - PresentProject Consultancy
Tubitak
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences , Turkey
Awards
Citations
Total Citations (WOS): 155
h-index (WOS): 6
Jury Memberships
December-2023
December 2023Doctoral Examination
Cansu Kök Doktora Yeterlilik Sınavı - İstanbul Üniversitesi
September-2023
September 2023Doctorate
Elif Pala tez savunma - İstanbul Üniversitesi
September-2023
September 2023Doctorate
Sevcan Kılıç jürisi - İstanbul Üniversitesi
September-2023
September 2023Doctorate
Asena Çoşgun Tahsildaroğlu jürisi - İstanbul Üniversitesi
September-2023
September 2023Doctoral Examination
Türkan Sultanlı sınavı - İstanbul Üniversitesi
June-2023
June 2023