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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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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2003
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| Acceso en liña: | 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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