Rare Diseases

Current bibliography for experts

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FABRY

Dysregulated DNA methylation in the pathogenesis of Fabry disease

2022-09-26

This study provides evidence that α-galactosidase A deficiency and glycosphingolipid storage may affect DNA methylation homeostasis and highlights the importance of epigenetics in the pathogenesis of Fabry disease.

FABRY

The potential consequences of bidirectional promoter methylation on GLA and HNRNPH2 expression in Fabry disease phenotypes in a family of patients carrying a GLA deletion variant

2022-06-24

According to the data obtained in this study, the DNA methylation of GLA-HNRNPH2 BDP may serve a role in diagnosing and treating Fabry disease (FD).

FABRY

DNA methylation impact on Fabry disease

2021-02-02

Methylation analyses of GLA gene may provide epigenetic signatures to predict whether pre-symptomatic female carriers will develop symptoms thus helping timely interventions.

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Gene2info provides genetic diagnoce service for 23 of rare diseases

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