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.

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 ...

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

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

The prevalence of pregnant women administered anti-D prophylaxis antenatally remains worryingly low in India.

A clinical scoring system has been validated for predicting 30-day mortality in acute exacerbations of idiopathic pulmonary fibrosis (IPF).

Elevated basal serum tryptase levels in SM and HαT, as well as overlapping clinical characteristics, complicate the diagnostic process for both disorders.

Katherine Mathews, MD, leads the University of Iowa's Wellstone Muscular Dystrophy Specialized Research Center.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

Are you a health care provider inquiring about the signs and symptoms of hemolytic disease of the fetus and newborn (HDFN)? Read more here.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder characterized by the premature breakdown of red blood cells. It can express variably in patients, from unnoticeable or minor symptoms ...