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.

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

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.