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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Veröffentlicht in:	Iranian journal of child neurology 2017-06, Vol.11 (3), p.53-56
Hauptverfasser:	Noroozi Asl, Samaneh, Vakili, Rahim, Ghaemi, Nosrat, Eshraghi, Peyman
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report
Online-Zugang:	Volltext
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