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Article

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene

24 Jul 2019

Abstract excerpt

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A). The clinical variability of the phenotypes of Fabry disease in females is still poorly understood. The degree of aberrant methylation of non-mutated alleles is thought to have significant effects on X-chromosome inactivation (XCI). We previously reported that one heterozygous Fabry female showing...

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PMID: 31372342
DOI: 10.1016/j.ymgmr.2019.100497

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