The prevalence of PBC is expected to rise in the United States and the wider world, requiring concrete, proactive action.

There are several experimental therapies under investigation for the treatment of Fabry disease, including enzyme replacement therapy (ERT), substrate ...

Diet and nutrition play a key role in managing Duchenne muscular dystrophy (DMD). Dietary goals include preserving lean muscle mass, preventing weight gain and fat accumulation, maintaining bone ...

Investigational gene therapy showed sustained clinical benefit and long-term safety in severe hemophilia B over 13 years of follow-up.

Among women who undergo routine obstetric antibody screening, certain maternal immune responses are occasionally detected that have an uncertain clinical significance. The current review focused on 4 ...

Neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) have a negative impact on employment, a study found.

Bilirubin results may differ between neonates of different ethnicities, a possibility that should inform the interpretation of these results.

The damage associated with IgG4-RD can be irreversible, and tools such as the IgG4-RD DI allow clinicians to better track disease progression.

There is a substantial cardiovascular disease burden, particularly ischemic heart disease, among adults with sickle cell disease (SCD).

The appendicular lean mass was lower in patients with Fabry disease at a mean of 20,324 g compared to 25,529 g in healthy people.

Monomeric C-reactive protein (mCRP) levels were significantly elevated in AAV and declined earlier than pentameric CRP during treatment.

A new dual-feature framework was able to increase the diagnostic ability of myeloproliferative neoplasms, including MF, a study found.