MODERATE LEVELS OF THE FLU IN TONIGHT’S WOMAN’S DOCTOR, HAVE YOU TAKEN A CLOSE LOOK AT YOUR FINGERNAILS? SOMETHING LOOKS A LITTLE BIT OFF. YOU MAY WANT TO TALK WITH YOUR DOCTOR. DR. ERNESTINE ...

In patients with Fabry disease, a pathogenic variant in the galactosidase alpha (GLA) gene leads to α-galactosidase A (aGAL-A) enzyme deficiency, which in turn results in a progressive ...

CloseCurlyDoubleQuote; In patients with Fabry disease, a pathogenic variant in the galactosidase alpha (GLA) gene leads to a-galactosidase A (aGAL-A) enzyme deficiency, which in turn results in a ...

A 44-year-old man presented with a 5-year history of heat intolerance and burning pain in his hands and feet. He had periumbilical angiokeratomas and nonnephrotic proteinuria. A kidney biopsy was ...

Inborn errors of metabolism (IEMs) are genetic disorders characterized by dysfunction of an enzyme or other protein ... overlooking a treatable metabolic disease. To make our presentation readily ...