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

This is the first study to have described family screening in a large Russian cohort of patients with FD and chronic kidney disease.

FABRY

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

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

LIZOZOMAL DEPO HASTALIKLARI

The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China

The scope of drug reimbursement list and the reimbursement level should be further expanded and raised to help improve the living conditions of patients with LSDs.

FABRY

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

In this review, the problems faced in the family genetic screening of patients affected with rare genetic diseases are highlighted by an international group of experts of Fabry disease. These problems include related costs, low awareness of its importance, cultural and societal issues, educational levels of the population, national geography and infrastructure, and a lack of medical geneticists.

NADIR HASTALIKLAR

Rare diseases