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 ...

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

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

A new study conducted in India has revealed that 40% of antenatal patients experienced severe fetomaternal hemorrhage, which can increase the risk of HDFN.

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

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

Large language models may offer complementary value to human expert analysis in the diagnosis of achondroplasia and other skeletal dysplasias.

Once Fabry disease is suspected, the diagnostic approach differs by sex, although genetic testing is required to confirm the diagnosis in all individuals. 1 This distinction exists because some ...

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 ...