Rare Diseases

Current bibliography for experts

"Lpha-galactosidase" search results...

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

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

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.

FABRY

Multidisciplinary Management of Fabry Disease: Current Perspectives

2022-03-10

This review aims to describe the clinical features and the current perspectives in the multidisciplinary management of Fabry disease (FD) patients.

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

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.

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