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Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann–Pick disease type C in a Russian patient: a case report
BACKGROUND: Niemann–Pick disease type C is a rare metabolic disease characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. Niemann–Pick disease type C has an extremely heterogeneous clinical presentation with a wide range of visceral a...
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| Publicado no: | J Med Case Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4888417/ https://ncbi.nlm.nih.gov/pubmed/27250337 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-0925-4 |
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