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The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran

Niemann–Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Iran J Child Neurol
Prif Awduron: NOROOZI ASL, Samaneh, VAKILI, Rahim, GHAEMI, Nosrat, ESHRAGHI, Peyman
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Shahid Beheshti University of Medical Sciences 2017
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5582361/
https://ncbi.nlm.nih.gov/pubmed/28883878
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