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

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 ...

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 ...

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

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

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

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

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.

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 ...

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