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[Expert consensus for diagnosis and treatment of Fabry disease in China (2021)].

Zhonghua nei ke za zhi - 1 Apr 2021

Abstract excerpt

Fabry disease is a rare X-linked genetic lysosomal storage disorder caused by mutations in the GLA gene, which results of reduced or absent activity of α-galactosidase A, accumulation of metabolic substrates globotriaosylceramide (GL-3) and derivatives deacylated derivative globotriaosylsphingosine (Lyso-GL-3) in multiple tissues, and multi-organ diseases and even life-threatening complications. Due to the lack...

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PMID: 33765701
DOI: 10.3760/cma.j.cn112138-20201218-01028

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