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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Auteurs principaux: KARIMZADEH, Parvaneh, AHMADABADI, Farzad, JAFARI, Narjes, JABBEHDARI, Sayena, ALAEE, Mohammad Reza, GHOFRANI, Mohammad, TAGHDIRI, Mohammad Mahdi, TONEKABONI, Seyed Hassan
Format: Artigo
Langue:Inglês
Publié: Shahid Beheshti University of Medical Sciences 2013
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Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943044/
https://ncbi.nlm.nih.gov/pubmed/24665318
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