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

Biomarkers are increasingly recognized for their use in diagnosing and tracking disability progression in NMOSD.

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

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 ...

Use of older prophylactic agents such as danazol and tranexamic acid has markedly declined in Hungary, while on-demand-only management is increasingly common. Modern prophylactic therapies for ...

In those with HAE-C1NH, whole blood under cold activation demonstrated a noticeable elevation in bradykinin levels, with minimal impact on healthy subjects.

Postnatal anti-D immunoprophylaxis is ineffective in fully preventing alloimmunization and should thus be administered early in pregnancy.

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

An extension of the dosing interval of lanadelumab retains effectiveness in reducing attack frequency in patients with HAE.

Children with achondroplasia often show gait abnormalities, especially at distinct points in the gait cycle, compared to typical peers.

A case has been reported of generalized pustular psoriasis (GPP) developing after steroid withdrawal in a patient with breast cancer.

Patients with antiaquaporin 4 antibody-positive NMOSD and MOGAD often also have other comorbidities, a study found.