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Niemann-Pick disease type C
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. The neurological inv...
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| Formato: | Texto |
| Lenguaje: | English |
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BioMed Central
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2902432/ https://www.ncbi.nlm.nih.gov/pubmed/20525256 http://dx.doi.org/10.1186/1750-1172-5-16 |