Yayınlar & Eserler

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 9

1. Taliglucerase-alfa experience with 34 Gaucher disease patients from Turkey

19th Annual World Symposium, Florida, Amerika Birleşik Devletleri, 21 - 26 Şubat 2023, ss.98, (Özet Bildiri) identifier

2. Lysinuric Protein Intolerance: Follow-Up in Pregnancy

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.1-547, (Özet Bildiri)

3. Familial Hypercholesterolemia: Factors Associated with Diagnosis and Age at Diagnosis in Children

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.1-547, (Tam Metin Bildiri)

4. Clinical and Biochemical Characterization of Patients With 3-Methylcrotonyl-Coa- Carboxylase Deficiency

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.1-547, (Tam Metin Bildiri)

5. Isobutyryl-Coa Dehydrogenase Deficiency: A Rare Disease Detectable by Tandem Mass Spectrometry

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.1-547, (Özet Bildiri)

6. L2-Hydroxyglutaric Aciduria: Clinical and Biochemical Evaluation of 33 Patients from a Single Center

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.1-547, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

7. Glycogen Storage Disease Type Ib and Amyloidosis: A Cause of Proteinuria

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.1-547, (Tam Metin Bildiri)

8. Nonketotic Hyperglycinemia:Outcome of Patients from a Single Center

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.1-547, (Tam Metin Bildiri)

9. Ethylmalonic encephalopathy: Can liver transplantation be a treatment option?

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Yunanistan, 4 - 07 Eylül 2018, cilt.41, ss.109, (Özet Bildiri)
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