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Gaucher Disease: The Metabolic Defect, Pathophysiology, Phenotypes And Natural History
Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. The result is widespread accumulation of macrophages engorged with predominantly lysosomal glucocerebroside. A complex multisystem phenot...
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| Publicado no: | Pediatr Endocrinol Rev |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4520262/ https://ncbi.nlm.nih.gov/pubmed/25345088 |
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