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

Biomarkers in Fabry Disease, Implications for Clinical Diagnosis and Follow-up

2021-04-13

The use of various biomarkers in Fabry disease may help the diagnosis of the disease and the early detection of organ injury, and provide more information on disease progression and prognosis.

FABRY

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

2021-04-09

In this review, the problems faced in the family genetic screening of patients affected with rare genetic diseases are highlighted by an international group of experts of Fabry disease. These problems include related costs, low awareness of its importance, cultural and societal issues, educational levels of the population, national geography and infrastructure, and a lack of medical geneticists.

FABRY

Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy

2021-04-01

In this paper, the case of a 40-year-old male FD patient with left ventricular hypertrophy is described.

FABRY

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week

2021-02-23

The diagnosis and staging of FD-related cardiac diseases have improved thanks to advances in imaging techniques, suggesting that myocardial inflammation plays a significant role in the development of the disease.

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.

XLSD

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

2021-01-27

The study's goal was to determine the prevalence of the three treatable types of lysosomal storage disorders (Gaucher disease [GD], Pompe disease [PD], and Fabry disease [FD]) in a cohort of primarily urban-dwelling Africans, a previously unexplored genetic environment for LSDs.

FABRY

Stroke and Fabry Disease: A Review of Literature

2020-12-14

This review summarizes the current knowledge of the pathophysiology, neuroradiology, treatment, and prognosis of cerebrovascular disease in Fabry patients.

FABRY

Developments in the treatment of Fabry disease

2020-09-01

This review summarizes what is known about present and prospective future therapy options for Fabry disease.

FABRY

Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued?

2020-08-01

COVID-19's effect on Fabry disease patients who are getting enzyme replacement therapy is currently unknown, however they may be at a high risk of serious consequences. In patients with Fabry disease, home-therapy appears to be the most efficient strategy to maintain enzyme replacement therapy access during the pandemic.

FABRY

A consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup

2020-08-01

This study aimed to find a consensus phenotypic classification for previously unclassified GLA variants by using the GLA-specific fabry-database.org database. Clinical pathogenicity associated with a particular GLA variant defined in affected males appears to have predictive value and also generally correlates with risk for affected females. The newly developed classifications can aid in the clinical management of Fabry patients who have these variants.

FABRY

Diagnosis and Screening of Patients with Fabry Disease

2020-06-22

The aim of this review was to provide an update on diagnosis and screening of patients with Fabry disease (FD).

FABRY

Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort

2020-03-01

The frequency of amenable mutations, related to phenotype, in a population of adult patients with Fabry Disease (FD) in Switzerland is investigated in this research. Further studies are needed to determine the long-term effects of migalastat therapy based on the enzyme activity achieved in different amenable mutations.

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