Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series)

OBJECTIVE: Biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal recessive inheritance. If this disorder is diagnosed in newborn period, could be prevented well from mental and physical developmental delay and most of clinical manifestations. MATERIALS & METHODS...

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Detaylı Bibliyografya
Asıl Yazarlar: KARIMZADEH, Parvaneh, AHMADABADI, Farzad, JAFARI, Narjes, JABBEHDARI, Sayena, ALAEE, Mohammad Reza, GHOFRANI, Mohammad, TAGHDIRI, Mohammad Mahdi, TONEKABONI, Seyed Hassan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Shahid Beheshti University of Medical Sciences 2013
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943044/
https://ncbi.nlm.nih.gov/pubmed/24665318
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