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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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| 出版年: | JIMD Rep |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer Berlin Heidelberg
2015
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| 主題: | |
| オンライン･アクセス: | 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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