A carregar...

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

BACKGROUND: Niemann-Pick disease type C (NPC) is a rare, fatal neurovisceral disorder with autosomal recessive inheritance, and featuring striking clinical variability dependent on the age at onset of neurological symptoms. We report data from a large cohort of 56 Czech patients with NPC diagnosed o...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Jahnova, Helena, Dvorakova, Lenka, Vlaskova, Hana, Hulkova, Helena, Poupetova, Helena, Hrebicek, Martin, Jesina, Pavel
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4193985/
https://ncbi.nlm.nih.gov/pubmed/25236789
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0140-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!