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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...

詳細記述

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書誌詳細
出版年:Clin Cases Miner Bone Metab
主要な著者: Linari, Silvia, Castaman, Giancarlo
フォーマット: Artigo
言語:Inglês
出版事項: CIC Edizioni Internazionali 2015
主題:
オンライン・アクセス: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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