Niemann-Pick disease type C
<p>Abstract</p> <p>Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. T...
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| 主要作者: | |
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| 格式: | Artigo |
| 语言: | Inglês |
| 出版: |
BMC
2010-06-01
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| 丛编: | Orphanet Journal of Rare Diseases |
| 在线阅读: | http://www.ojrd.com/content/5/1/16 |
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