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- W3217508230 abstract "Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene that results in deficiency of the enzyme GLA and leads to the accumulation of globotriaosylceramide (GL-3) in cells. The accumulation of GL-3 may lead to life-threatening complications. Significant advances in genetic sequencing technology have led to a better understanding of genotype-phenotype interactions in Fabry disease. Fabry disease with an R112H mutation is known as the non-classic type. However, the long-term clinical course of the disease remains unknown. We herein report a patient with a 30-year natural history of non-classic Fabry disease with an R112H mutation." @default.
- W3217508230 created "2021-12-06" @default.
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- W3217508230 date "2022-06-01" @default.
- W3217508230 modified "2023-10-05" @default.
- W3217508230 title "The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation" @default.
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- W3217508230 doi "https://doi.org/10.2169/internalmedicine.8213-21" @default.
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