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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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2013-10-01
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| Series: | Pediatrics and Neonatology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957213000168 |
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