As Rare Disease Day is commemorated on 28 February, experts discuss the barriers to gene therapy access for some rare ...

Hirschsprung's disease is a rare condition that prevents a person from pooping normally. Babies with Hirschsprung's are missing the nerve cells needed to push digested food out of their colon ...

Symptoms of Crohn’s disease and diverticulitis can be very similar, but they are two separate conditions. Diagnostic tests and procedures like a colonoscopy can help your doctor to know which ...

Methods: Data from medical records of the 44 heterozygous females followed at Cedars-Sinai Medical Center were compiled and analyzed for symptoms of Fabry disease. Quality of life data were also ...

Objective The cardiovascular manifestations of Fabry disease are common and represent the leading cause of death. Disease-specific therapy, including enzyme replacement therapy (ERT) and chaperone ...

Amicus Therapeutics announced that it will showcase two oral presentations and 20 posters related to its research on Fabry and Pompe diseases at the 21st Annual WORLDSymposium™ 2025 taking place ...

In May 2023, Elfabrio was approved by the FDA and EMA for Fabry disease. This is a $2 billion market dominated by three products [1] and one where legacy offerings present several shortcomings.

Each Monday he will use his extensive network of hockey contacts for his weekly notes column, "Zizing 'Em Up.” TORONTO --Bill Guerin is at a loss for words. Which is the rarest of rarities ...

Background Fabry disease is a treatable X-linked condition leading to progressive cardiomyopathy, arrhythmia and premature death. Atrial and ventricular arrhythmias contribute significantly to adverse ...