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Clinical manifestations and management of Gaucher disease
Gaucher disease is a rare multi-systemic metabolic disorder caused by the inherited deficiency of the lysosomal enzyme β-glucocerebrosidase, which leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages with damage to haematological, visceral and bone systems. Anae...
Enregistré dans:
| Publié dans: | Clin Cases Miner Bone Metab |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
CIC Edizioni Internazionali
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4625773/ https://ncbi.nlm.nih.gov/pubmed/26604942 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11138/ccmbm/2015.12.2.157 |
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