Rare Diseases

Current bibliography for experts

"Gla" search results...

FABRY

Identification of c.146G > A mutation in a Fabry patient and its correction by customized Cas9 base editors in vitro

2025-01-22

This study identifies a significant mutation (c.146G>A) in exon 1 of the GLA gene in a female Fabry disease patient. Bioinformatic predictions and biochemical analyses revealed that this variant significantly reduced the stability and activity of α-galactosidase A, confirming its pathogenicity. Using an adenine base-editing technique, the mutation was corrected in vitro. The study not only identified a novel variant but also demonstrated the potential of the CRISPR/Cas9 system.

FABRY

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

2023-06-10

This article reports a rare familial case of inherited cardiac Fabry disease (FD) associated with a novel double mutation in the GLA gene: W24R and N419D.

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

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene

2022-12-01

p.Pro380Leu novel pathogenic variant of GLA gene should be considered as pathogenic and associated with a late-onset variant of Fabry disease with a predominant neurological phenotype.

FABRY

An Overview of Molecular Mechanisms in Fabry Disease Biomolecules.

2022-10-12

This review provides an overview of the main features of FD, focusing on its molecular mechanism and the role of biomarkers.

FABRY

Methylome Profiling in Fabry Disease in Clinical Practice: A Proof of Concept

2022-10-11

The methylation state of specific genes can potentially identify Fabry patients and possibly predict organ involvement and disease evolution.

XLH

A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia

2022-09-28

This article presents a family with X-linked hypophosphatemia (XLH) due to a novel synonymous PHEX variant with a unique mechanism.

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.

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