In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History

Niemann–Pick type C (NPC) disease is a recessive disorder that results in unesterified cholesterol accumulating in the lysosomal and late endosomal system. It is caused by mutations in NPC1 or NPC2 genes and leads to systemic and neurodegenerative symptoms. Few cases of prenatal presentation of NPC...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Colin, E., Barth, M., Boussion, F., Latour, P., Piguet-Lacroix, G., Guichet, A., Ziegler, A., Triau, S., Loisel, D., Sentilhes, L., Bonneau, D.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059189/
https://ncbi.nlm.nih.gov/pubmed/26563327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_516
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