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Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease.

Glycosphingolipid (GSL) lysosomal storage disorders are inherited enzyme deficiencies that result in pathological lysosomal accumulation of glycolipids, with widespread clinical consequences. Type 1 Gaucher disease is the commonest of these; the deficient enzyme in this condition is glucocerebrosida...

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Detalhes bibliográficos
Autor principal: Moyses, Chris
Formato: Artigo
Idioma:Inglês
Publicado em: 2003
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1693174/
https://ncbi.nlm.nih.gov/pubmed/12803929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1098/rstb.2003.1271
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