Article
Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.
Molecular genetics and metabolism - 1 Feb 2018
Nowak Albina, Mechtler Thomas P, Hornemann Thorsten, Gawinecka Joanna, Theswet Eva, Hilz Max J, Kasper David C
Abstract excerpt
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene causing deficiency of α-galactosidase A which results in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3), in body liquids and lysosomes. In a large cohort of FD patients, we aimed to establish genotype/phenotype relations as indicated by serum...
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