A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinoses (NCLs) represent the most common group of inherited progressive encephalopathies in children. They are characterized by progressive loss of vision, mental and motor deterioration, epileptic seizures, and premature death. Rare adult forms of NCL with late onset are know...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Abitbol, Marie, Thibaud, Jean-Laurent, Olby, Natasha J., Hitte, Christophe, Puech, Jean-Philippe, Maurer, Marie, Pilot-Storck, Fanny, Hédan, Benoit, Dréano, Stéphane, Brahimi, Sandra, Delattre, Delphine, André, Catherine, Gray, Françoise, Delisle, Françoise, Caillaud, Catherine, Bernex, Florence, Panthier, Jean-Jacques, Aubin-Houzelstein, Geneviève, Blot, Stéphane, Tiret, Laurent
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2010
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2930459/
https://ncbi.nlm.nih.gov/pubmed/20679209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0914206107
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados