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Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis

Niemann–Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/150,000 births. The broad clinical spectrum r...

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Guardado en:
Autores principales: Ozge Surmeli-Onay, Selin Yakarisik, Ayse Korkmaz, Zuhal Akcoren, Aysel Yuce, Heiko Runz, Miriam Stampfer, Murat Yurdakok
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2013-10-01
Colección:Pediatrics and Neonatology
Materias:
filipin staining
Niemann–Pick type C disease
nonimmune hydrops fetalis
prenatal onset
Acceso en línea:http://www.sciencedirect.com/science/article/pii/S1875957213000168
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