क्यूआर कोड

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...

पूर्ण विवरण

में बचाया:
मुख्य लेखकों: Ozge Surmeli-Onay, Selin Yakarisik, Ayse Korkmaz, Zuhal Akcoren, Aysel Yuce, Heiko Runz, Miriam Stampfer, Murat Yurdakok
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2013-10-01
श्रृंखला:Pediatrics and Neonatology
विषय:
filipin staining
Niemann–Pick type C disease
nonimmune hydrops fetalis
prenatal onset
ऑनलाइन पहुंच:http://www.sciencedirect.com/science/article/pii/S1875957213000168
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