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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...
Tallennettuna:
| Julkaisussa: | Pediatr Endocrinol Rev |
|---|---|
| Päätekijät: | , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4520262/ https://ncbi.nlm.nih.gov/pubmed/25345088 |
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