Metrics
Publication
200
Open Access
4
UN Sustainable Development Goals
Announcements & Documents
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Education
2022 - Continues
2022 - ContinuesPostgraduate
Istanbul University, 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
Academic Positions
2020 - Continues
2020 - ContinuesAssistant Professor
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences
2017 - Continues
2017 - ContinuesLecturer 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
Journal articles indexed in SCI, SSCI, and AHCI
2025
2025Phenotypic plasticity in Mediterranean gorgonians Eunicella singularis and Paramuricea clavata at high temperature and low pH
BELİVERMİŞ M., KILIÇ Ö., ÖZALP H. B., Demiralp S., OKTAYOĞLU S., ELDEM V., et al.
Science of the Total Environment
, vol.990, 2025 (SCI-Expanded)
2025
2025The 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
2025Coexistence 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)
2024
2024Oxidative 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
2024The 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)
2024
2024Oxford 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)
2024
2024Challenging 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
2024Evaluation 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)
2024
2024Experiences 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)
2024
2024Clinical 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)
2024
2024Clinical, 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)
2024
2024Levodopa-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)
2023
2023A 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)
2023
2023Novel 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)
2023
2023Evaluation 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)
2023
2023Concurrent 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)
2023
2023Reanalysis 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)
2023
2023Triosephosphate 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)
2023
2023Clinical 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)
2022
2022Leucine 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)
2022
2022A 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
2022Cardiologic 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)
2017
2017Clinical 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)
2017
20173-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)
2016
2016Rapid 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)
2014
2014Clinical 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)
2014
2014Oral 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
2012CONGENITAL 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)
2012
2012MAPLE 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
2012OCTN2 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)
2012
2012alpha-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)
2011
2011THE 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)
Articles Published in Other Journals
2025
2025Neonatal-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, pp.417-427, 2025 (Scopus)
2025
2025EVALUATION 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)
2024
2024Clinical, 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)
2020
2020The 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)
2011
2011Öksürük ve öksürük şurupları.
Balcı M. C., Somer A.
Klinik Tıp Pediatri Dergisi , vol.3, no.1, pp.1-6, 2011 (Non Peer-Reviewed Journal)
Papers Presented at Peer-Reviewed Scientific Conferences
2024
2024COMPARISON 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
2024Evaluation 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
2024DETERMINATION 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
2024BIOTINIDASE 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
2024Congenital 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
2024Genetic 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
2024Lysosomal 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
2024Circulating 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
2024Akut 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
2024Klasik 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
2024Üre 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
2024metabolik 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
2023Kılıç 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
2023glikojen 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
2023Cellular 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
2023Pregnancy, 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
2023Inborn 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
2023Menstrual 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
2023Evaluation 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
2023Mitochondrial 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
2023Rapid, 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
2023Pregnancy, 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
2023Retrospective 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
2023Fluorometric 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
2023Neuraminidase 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
2023Farber 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
2023Immunomodulation 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
2023İstanbul 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
2023Pancreatic 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
2023OTC 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
2023Mitokondriyal 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
2022Metabolik 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
2022Are 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
2022Diagnostic 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
2022Demographic 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
2022CONGENITAL 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
2022Phenylketonuria 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
2022Evaluation 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
2022Retrospective 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
2022ORGANİK 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
2021Propionic 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
2021Diagnostic 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
2021Clinical 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
2021Diagnosis 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
2021Covid- 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
2021RARE 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
2021Hemolitik 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
2020Mitokondriyal 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
2019TEK 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
2019Karaciğer 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
2019Karaciğer 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
2019The 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
2019Glutaric 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
2019Homocystinuria 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
2019Carnitine 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
2019Carnitine 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
2019Clinical 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
2019Cerebrotendinous 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
2019Glycogen 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
2019Psychiatric 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
2019BH4 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
2019Glycogen 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
2019Nonketotic 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
2019Nutrition 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
2019Citrin 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
2019Coenzym 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
2019Lysinuric 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
2019Isobutyryl-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
2019Nonketotic 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
2019Citrin 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
2019Familial 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
2019Clinical 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
2019Glycogen 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
2019L2- 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
2019Glycogen 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
2019Glycogen 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
2019Lysinuric 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
2019Lysinuric 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
2019Familial 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
2019Galaktokinase 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
2019Familial 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
2019Clinical 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
2019Clinical 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
2019Isobutyryl-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
2019Citrin 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
2019Evaluation 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
2019Nonketotic 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
2019L2-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
2019Clinical 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
2018Glycogen 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
2018Ethylmalonic 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
2018Mitochondrial 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
2018Ethylmalonic 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
2018Glycogen 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
2018Mitochondrial 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
2018Ethylmalonic 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
2018CRIM 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
2018Geç 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
2018CRIM 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
2018Üre 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
2018GALT 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
20173-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
2017Clinical 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
2017Systemic 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
2017HEPATOCELLULAR 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
2017Tirozinemi 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
2017Tirozinemi 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)
2016
2016Biotinidase 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
2016Cerebrotendinous 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
2016Maple 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
2016Clinical 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
2016Gaucher 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
2016Enzim 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
2016Enzim 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
2015Profound 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
2015Profound 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
2015Profound 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
2015Kolestaz, 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
2015Progressif 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
2015Pompe 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
2015Paroksismal 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
2014Nöbet 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
2013Gaucher 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)
2013
2013Clinical 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)
2012
2012Maple 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
2012Congenital 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
2012α-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
2012OCTN2 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
2012Maple 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
2012Metabolik 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)
2012
2012Zellweger 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)
2011
2011The 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
2011Kas (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
2025Solukluk, 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
2024
2024Mucopolysaccharidosis Type VI
Balcı M. C., Gökçay G. F.
in: Mucopolysaccharidoses and Oligosaccharidoses, Mehmet GÜNDÜZ, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.28-34, 2024
2024
2024Ketogenic diets and childhood epilepsy
Balcı M. C.
in: Pediatric epileptology, selçuk apak,burak tatlı, Editor, Nobel Tıp Kitapevi, İstanbul, pp.310-326, 2024
2024
2024Follow-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
2024The 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
2024Mukopolisakkaridoz Tip VI
BALCI M. C., GÖKÇAY G. F.
in: Mukopolisakkaridoz ve Oligosakkaridozlar, GÜNDÜZ MEHMET, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.28-34, 2024
2024
2024Nutrition 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
2024
2024Fenilketonürisi 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
2023
2023"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
2023"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
2023Vaka 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
2023
2023Konjenital 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
2023Vaka 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
2023Vaka 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
2023Vaka 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
2022
2022Tamamlayıcı 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
2021Mitokondriyal 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
2021Neurometabolic 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
2021COVID-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
2021MİTOKONDRİYAL 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
2020Inborn 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
2020Bölüm 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
2020XI. 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
2020
2020XI. 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
2018
2018Karbonhidrat Metabolizması Hastalıkları
BALCI M. C., DEMİRKOL M.
in: Yurdakök Pediatri, Murat Yurdakök; Turgay Coşkun, Editor, Güneş Tıp Kitabevi, İstanbul, pp.146-181, 2018
2018
2018Çocukta metabolizma hastalıkları semiyolojisi
BALCI M. C., GÖKÇAY G. F.
in: Pediyatrik Semiyoloji, Fatma Oğuz, Editor, İstanbul Tıp Kitabevleri, İstanbul, pp.323-334, 2018
2016
2016Rapid 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
2016Çocukta Metabolizma Hastalıkları Semiyolojisi
Balcı M. C., GÖKÇAY G. F.
in: Pediyatrik Semiyoloji, Fatma Oğuz, Editor, İstanbul Tıp Kitabevi, İstanbul, pp.266-276, 2016
2015
2015Fatty 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
2023ÖMER KARTAL ÖZTÜRK BİLİRKİŞİ
Yaşa B., Balcı M. C.
İSTANBUL TIP FAKÜLTESİ, pp.2, İstanbul, 2023
Funded Projects
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.
2024 - 2026
2024 - 2026Kalıtsal Metabolizma Hastalıklarında Metabolomik ve Lipidomik Profilleme ile Laboratuvarda Geliştirilen Testler
Project Supported by Higher Education Institutions
Gedikbaşı A. (Executive), Gökçay G. F., Aydın A. F., Atak M., Deniz N. G., Küçükgergin C., et al.
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.
2022 - 2025
2022 - 2025TUBITAK Project
(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
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
Yeşil Sayın G., Atalar F., Gökçay G. F. (Executive), Balcı M. C.
2023 - 2024
2023 - 2024Kit development using third-generation sequencing technology for second-line molecular diagnostics in extended newborn screening by sequential mass spectophotometry
Project Supported by Other Official Institutions
Balcı M. C.
2022 - 2024
2022 - 2024Lizozomal Depo Hastalıklarında Enzimatik Tanı Yöntemlerinin Kurulması Optimizasyonu ve Validasyonu
Project Supported by Higher Education Institutions
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
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 2023JOURNAL OF PEDIATRIC ENDOCRINOLOGY AND METABOLISM
Journal Indexed in SCI-E
January 2023
January 2023Çocuk Dergisi
National Scientific Refreed Journal
Scientific Consultations
2023 - Continues
2023 - ContinuesProject Consultancy
Tubitak
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences , Turkey
Awards
May 2023
May 2023Sözlü bildiri birincilik
Çocuk Beslenme Ve Metabolizma Derneği
Citations
Total Citations (WOS): 100
h-index (WOS): 4
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
Asena Çoşgun Tahsildaroğlu jürisi - İstanbul Üniversitesi
September-2023
September 2023Doctorate
Sevcan Kılıç jürisi - İstanbul Üniversitesi
September-2023
September 2023Doctoral Examination
Türkan Sultanlı sınavı - İstanbul Üniversitesi
June-2023
June 2023