For US healthcare professionals only

FABRY VIDEOS

Darrick, living with Fabry disease

Video resources with insights about Fabry disease 

Hear Darrick’s story

Darrick describes his journey to a Fabry disease diagnosis and his life with Fabry.

Hear Darrick’s story

Darrick describes his journey to a Fabry disease diagnosis and his life with Fabry.

Expert perspectives on Fabry disease 

The importance of early diagnosis

Dr. Amy Kritzer discusses with Kira Dineen on the DNA Today podcast why early recognition of the variable symptoms of Fabry disease is essential to improve care.

What cardiologists need to know about Fabry disease

Dr. Martin Maron reviews Fabry disease and provides tips on how to recognize its cardiac and noncardiac signs and symptoms.

Diagnostic strategies for Fabry disease

Dr. Martin Maron and Dr. Usman Tahir discuss when and how to test for Fabry disease, including approaches to genetic testing.

Fabry disease vs HCM case studies

Dr. Martin Maron presents two cases of patients with presumed sarcomeric HCM who were subsequently diagnosed with Fabry disease.

Pathogenesis of Fabry disease

Fabry disease and its multisystemic effects

Misfolded alpha-galactosidase A that cannot be efficiently trafficked to the lysosome leads to accumulation of disease-causing substrates and organ damage.

Fabry disease and its multisystemic effects

Misfolded alpha-galactosidase A that cannot be efficiently trafficked to the lysosome leads to accumulation of disease-causing substrates and organ damage.

HCP, healthcare professional; HCM, hypertrophic cardiomyopathy.