Rare Diseases

Current bibliography for experts

FABRY

Fabry Disease is a rare glycosphingolipid accumulation disorder with an X chromosome-mediated inheritance. Hemizygous or heterozygous mutations in the GLA gene are responsible for Fabry disease.

FABRY

X-chromosomal inactivation patterns in women with Fabry disease

2022-09-10

This study investigates X-chromosomal inactivation patterns (XCI) as a potential determinant of symptom severity in women with Fabry disease (FD).

FABRY

Functional characterization of novel variants found in patients with suspected Fabry disease

2022-09-01

This paper presents four novel variants found in patients with suspicion of Fabry disease (FD).

FABRY

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

2022-09-01

This is the first study to have described family screening in a large Russian cohort of patients with FD and chronic kidney disease.

FABRY

Prediction of Regulatory SNPs in Putative Minor Genes of the Neuro-Cardiovascular Variant in Fabry Reveals Insights into Autophagy/Apoptosis and Fibrosis

2022-08-30

This study analyses 110 single nucleotide polymorphisms (SNPs) in the proximal promoter of 14 genes that could modify the phenotype of Fabry disease (FD).

FABRY

Pitfalls of X-chromosome inactivation testing in females with Fabry disease

2022-07-01

In this study, it is aimed to determine pitfalls of XCI testing in a cohort of 35 female Fabry disease (FD) patients.

FABRY

COVID-19 in Fabry disease: A reference center prospective study

2022-06-28

In this study, it was investigated whether coronavirus infection poses a particular risk for Fabry patients.

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

Twenty years of the Fabry Outcome Survey (FOS): Insights, achievements, and lessons learned from a global patient registry

2022-06-20

This study reviews the history of the Fabry Outcome Survey (FOS) and the analyses and publications disseminated from the registry, and discusses the contributions FOS studies have made in understanding Fabry Disease (FD).

FABRY

Late-onset Fabry disease: The cardiac sequela

2022-06-09

This is the first detailed description of a late-onset phenotype of Fabry disease (FD) with c.146 G>C GLA variant. In addition, this case serves as a potent reminder to pay meticulous attention to 'red flags' accompanying left ventricular hypertrophy (LVH)

FABRY

The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation

2022-06-01

This article is a report of a patient with a 30-year natural history of non-classic Fabry disease with an R112H mutation.

FABRY

Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)

2022-05-01

Precise clinical evaluation in individuals diagnosed with genetic variations of unknown significance should be performed to distinguish common symptoms broadly prevalent in the general population from those secondary to Fabry disease.

FABRY

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

2022-04-01

A panel of Fabry disease (FD) specialists convened to study how expertise may compare with the traditional approach.

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