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- Reiko Muto, Koji Inagaki, Noritoshi Kato, Shoichi Maruyama, and Toshiyuki Akahori.
- Department of Nephrology, Nagoya University Graduate School of Medicine, Japan.
- Intern. Med. 2022 Jun 1; 61 (11): 1727-1730.
AbstractFabry 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.
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