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Type 1 Gaucher Disease: Significant disease manifestations in “asymptomatic” homozygotes identified by prenatal carrier screening
BACKGROUND: Type 1 Gaucher Disease (GD), an autosomal recessive lysosomal storage disease, is most prevalent in the Ashkenazi Jewish (AJ) population. Experts have suggested that up to two-thirds of AJ homozygotes for the common mutation (N370S) are asymptomatic throughout life and never come to medi...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3098047/ https://ncbi.nlm.nih.gov/pubmed/20837833 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archinternmed.2010.302 |
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