Rare Diseases

Current bibliography for experts

"Globotriaosylsphingosine" 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.

FABRY

Value of Left Ventricular Feature Tracking Strain Analysis for Detection of Early Cardiac Involvement in Fabry Disease (FD)

2021-08-22

According to the findings of this study, strain abnormalities occur early beside native T1 reductions in cardiac FD involvement.

FABRY

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

2021-06-27

This study is the largest reported to date in Europe and presents data from long-term NBS for Fabry disease (FD) that reveals the current incidence of FD in northeastern Italy

FABRY

Precision Medicine in Fabry Disease

2021-06-22

In Fabry disease, precision medicine practices can enable physicians to predict more accurately which prevention and treatment strategy is best for which patient.

FABRY

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

2019-08-01

This article emphasizes the importance of early diagnosis and treatment of Fabry disease for preventing organ damage, morbidity, and premature mortality in adulthood.

FABRY

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease

2019-02-06

This article is a systematic review that includes 166 publications about enzyme replacement therapy (ERT) in the treatment of Fabry disease. When treatment is initiated early, better outcomes may be observed. There is a dose effect, according to the evidence. When data described in male patients, together with female and paediatric data, are evaluated, these inform clinical practice and therapeutic goals for individualized treatment.

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