Fetal ascites: an unusual presentation of Niemann-Pick disease type C.

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Fetal ascites: an unusual presentation of Niemann-Pick disease type C.

Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in bone marrow. Confirmatory investigations were prompted by experience of the first case.

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[Niemann-Pick disease (type C)].

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Niemann-Pick disease type C

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system. Approximatively 95% of patients have mutations in the NPC1 gene (mapped at 18q11) which encodes a large membran...

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preinatal types of niemann-pick disease type c

how to cite this article: alaei mr. preinatal types of niemann-pick disease type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 12. pls see pdf.

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1990

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.65.3.335-e