Evaluation of newborn screening for biotinidase deficiency from southeastern region of Türkiye

Objective: Biotinidase deficiency (BD) is an autosomal recessive inherited metabolic disorder. Biotin plays an important role as a cofactor of carboxylases. BD is categorized into two groups as profound and partial deficiency based on serum quantitative biotinidase enzyme activity (BA). Clinical ma...

Ausführliche Beschreibung

Bibliografische Detailangaben

1. Verfasser:	Emine Göksoy
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Aydın Pediatric Society 2023-12-01
Schriftenreihe:	Trends in Pediatrics
Schlagworte:	Biotinidase deficiency biotin newborn screening
Online-Zugang:	https://trendspediatrics.com/article/view/109
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