Rare Diseases

Current bibliography for experts

"Gla Variant" search results...

FABRY

Population Frequency of Undiagnosed Fabry Disease in the General Population

2023-04-17

This study confirms that Fabry disease is more common than previously recognized and still underdiagnosed especially in women.

FABRY

Prevalence of Fabry disease-causing variants in the UK Biobank

2023-04-01

The aim of this study is to determine the prevalence of Fabry disease-causing variants in UK Biobank.

ENZIM REPLASMA TERAPISI

Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?

2023-03-29

This paper presents a family in which a novel GLA pathogenic variant was associated with aseptic meningitis in 2 of 5 family members.

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

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

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.

FABRY

Detailed Phenotype of GLA Variants

2021-08-12

The findings of this study underline the importance of detailed phenotype description and data sharing in the correct identification of pathogenicity of gene variants detected by high-risk-population screening programs.

FABRY

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

2021-08-04

Regardless of treatment status, sex or phenotype, individuals with Fabry disease and amenable GLA variants who received long-term migalastat therapy (≤8.6 years) preserved renal function.

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

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations

2019-03-05

A major challenge in the clinical phenotyping of patients with Fabry disease is the differential diagnosis between its nonspecific cerebrovascular, cardiac and renal complications, and similar chronic illnesses that are common in the general population. Therefore, comprehensive phenotyping is crucial for grading the severity of pathogenic GLA variants.

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