Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease
Gaucher disease (GD) is an inherited lysosomal storage disease caused by mutations in the glucocerebrosidase gene. The decrease of glucocerebrosidase activity in lysosomes results in the accumulation of its substrate glucocerebroside in the lysosomes of macrophages in organs such as the liver, splee...
| 出版年: | Frontiers in Pediatrics |
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| 主要な著者: | , , , |
| フォーマット: | 論文 |
| 言語: | 英語 |
| 出版事項: |
Frontiers Media S.A.
2023-03-01
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| 主題: | |
| オンライン･アクセス: | https://www.frontiersin.org/articles/10.3389/fped.2023.1057574/full |