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Article

Biomarkers in Anderson–Fabry Disease

29 Oct 2020

Abstract excerpt

Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease. Intensive research of biomarkers has been conducted over the years, in order to detect novel markers that may potentially be used in clinical...

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PMID: 33138098
DOI: 10.3390/ijms21218080

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