Rare Diseases

Current bibliography for experts

"Heart Failure" search results...

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.

ALFA-MANNOSIDOZ

Mortality in patients with alpha-mannosidosis: A review of patients' data and the literature

2022-07-23

This study aimed to investigate the age at death and the causes of death of patients with alpha-mannosidosis who had not received disease-modifying treatment.

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)

GAUCHER

No association of Gaucher Disease with COVID-19-related outcomes: A nationwide cohort study

2021-12-23

According to our national data, SARS-CoV-2 infection in patients with Gaucher disease does not have a more severe course than the normal population.

GAUCHER

Interstitial lung disease in lysosomal storage disorders

2021-04-29

Early diagnosis for lysosomal storage diseases (LSDs) is crucial to prevent irreversible organ damage. Early initiation of enzyme replacement therapy (ERT) can, at least in part, prevent organ failure.

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

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).

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