A carregar...

Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

Salla disease (SD) is an autosomal recessive disorder in which free sialic acid (N-acetyl neuraminic acid) accumulates in lysosomes. A specific transport mechanism for acidic monosaccharides on the lysosomal membrane has recently been described, but the molecular deficiency causing SD is still unkno...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Schleutker, J, Sistonen, P, Aula, P
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051809/
https://ncbi.nlm.nih.gov/pubmed/8825046
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!