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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: KARIMZADEH, Parvaneh, AHMADABADI, Farzad, JAFARI, Narjes, JABBEHDARI, Sayena, ALAEE, Mohammad Reza, GHOFRANI, Mohammad, TAGHDIRI, Mohammad Mahdi, TONEKABONI, Seyed Hassan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Shahid Beheshti University of Medical Sciences 2013
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943044/
https://ncbi.nlm.nih.gov/pubmed/24665318
Tagiau: Ychwanegu Tag
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