Editorial
Editorial
Sema Kalkan Uçar
Original Article
Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey
Havva Yazıcı, Esra Er, Ebru Canda, et al.
Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience
Sebile Kılavuz, Fatma Derya Bulut, Deniz Kör, et al.
An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis
Esra Er, Ebru Canda, Havva Yazıcı, et al.
False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor
Eser Yıldırım Sözmen, Meral Dondurmacı, Sema Kalkan Uçar, et al.
Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience
Ebru Canda, Havva Yazıcı, Esra Er, et al.
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience
Ebru Canda, Havva Yazıcı, Esra Er, et al.
Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey
Havva Yazıcı, Ebru Canda, Esra Er, et al.
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria
Ebru Canda, Melis Köse, Havva Yazıcı, et al.
Case Report
Dietary Management of a Patient with Both Maple Syrup Urine Disease and Type I Diabetes
Mehmet Gündüz, Nevra Koç, Özlem Ünal, et al.
“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, et al.
Siblings with Ethylmalonic Encephalopathy: Case Report
Çiğdem Seher Kasapkara, Ayşe Aksoy, Emine Polat, et al.
A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome
Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, et al.
Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone
Havva Yazıcı, Ebru Canda, Esra Er, et al.
Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis
Ebru Canda, Havva Yazıcı, Esra Er, et al.
Letter to the Editor
Successful Management of Ornithine Transcarbamylase Deficiency Presenting with Reversible Metabolic Stroke in a Child
Özge Dedeoğlu, Kader Karlı Oğuz, Ayşe Aksoy, et al.
