Patients with neuromyelitis optica spectrum disorder (NMOSD) have a substantial risk of permanent disability even if they are treated with biologics, according to a new study published in the journal ...

The presence of intracutaneous amyloid deposition in asymptomatic TTR mutation carriers could be a predictive of ATTR-CM progression.

The change in extracellular volume is the only predictor of adverse outcome in patients with ATTR-CM treated with tafamidis, a study found.

Age over 75 years was significantly associated with reduced survival and shorter time on treatment. Ibrutinib remains an effective therapy for chronic lymphocytic leukemia (CLL), but older patients ...

Therapies for Gaucher disease generally fall into 2 main categories: enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Neither ERT nor SRT effectively treats the neurological ...

Results of the ApproaCH trial showed that navepegritide improved AGV over placebo in pediatric patients with achondroplasia.

Expert consensus has been achieved on a minimum data set for growth hormone monitoring in children with Prader-Willi syndrome (PWS).

Healthcare professionals generally agree that genetic testing can be useful in the HAE diagnostic process, but many urge caution in interpreting results.

General anesthesia provides similar pain control to nerve block-assisted anesthesia after limb lengthening surgery, common in achondroplasia.

Intravenous immunoglobulin therapy, a key treatment used in managing FNAIT, has been linked to the development of thrombocytopenia.

Patients with hepatocellular carcinoma (HCC) face a significantly elevated risk of thrombosis, with incidence higher in Europe.

A new clinical trial is recruiting patients with Fabry disease and renal disease to test the pharmacokinetics of migalastat.