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...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: KARIMZADEH, Parvaneh, AHMADABADI, Farzad, JAFARI, Narjes, JABBEHDARI, Sayena, ALAEE, Mohammad Reza, GHOFRANI, Mohammad, TAGHDIRI, Mohammad Mahdi, TONEKABONI, Seyed Hassan
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Shahid Beheshti University of Medical Sciences 2013
Aiheet:
Original Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943044/
https://ncbi.nlm.nih.gov/pubmed/24665318
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