Aim: Glycogen storage diseases (GSDs) are a heterogeneous group of inherited metabolic disorders caused by defects in enzymes or transporters involved in glycogen metabolism. Their clinical manifestations vary widely according to the affected tissue and disease subtype, ranging from hepatic symptoms to muscle-related c...
Ekin Özsaydı Aktaşoğlu, Sabire Gökalp, Hacer Basan et al.· Ankara Eğitim ve Araştırma H...· 0 citations
Triple A syndrome (AAAS) is a rare autosomal recessive neuroendocrine disorder caused by pathogenic variants in the AAAS gene and characterized by marked clinical heterogeneity. In this multicenter retrospective study, we analyzed 23 patients from 18 families diagnosed across nine centers in Türkiye to characterize the...
Dilek Çelebi, Aslıhan Kiraz, Zakhiriddin Khojakulov et al.· Hormone Research in Paediatr...· 0 citations
The findings provide robust evidence for familial transmission with reduced penetrance, emphasizing the necessity of family-based genetic counseling and parental testing, even when evaluating apparently asymptomatic individuals.
Ahmet Kablan, Abdullah Sezer, Atakan Deniz et al.· Diagnostics· 0 citations
Clinical findings in patients with HCH were milder in individuals with serine substitution than in those with lysine substitution, consistent with this, and underscores genetic and clinical heterogeneity of HCH.
Abdülkerim Kolkıran, M. A. Kulalı, Tuğba Daşar et al.· Hormone Research in Paediatr...· 0 citations
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