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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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Bibliografiska uppgifter
Huvudupphovsmän: KARIMZADEH, Parvaneh, AHMADABADI, Farzad, JAFARI, Narjes, JABBEHDARI, Sayena, ALAEE, Mohammad Reza, GHOFRANI, Mohammad, TAGHDIRI, Mohammad Mahdi, TONEKABONI, Seyed Hassan
Materialtyp: Artigo
Språk:Inglês
Publicerad: Shahid Beheshti University of Medical Sciences 2013
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943044/
https://ncbi.nlm.nih.gov/pubmed/24665318
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