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 ...

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.

Comprehensive single-cell and spatial transcriptomic analyses of cholangiocarcinoma (CCA) uncovered distinct molecular programs distinguishing intrahepatic from extrahepatic subtypes, providing ...

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

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

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

Researchers have established clinical indications for pediatric blood transfusions with various ABO/Rh blood types that emphasize Rh compatibility.

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

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 ...