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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Detalles Bibliográficos
Autores principales: Degtyareva, A. V., Mikhailova, S. V., Zakharova, E. Y., Tumanova, E. L., Puchkova, A. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4888417/
https://www.ncbi.nlm.nih.gov/pubmed/27250337
http://dx.doi.org/10.1186/s13256-016-0925-4

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