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 ...

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

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.

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 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.

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

Noninvasive imaging-based prediction may reduce the need for cardiac catheterization in pediatric PAH. A pilot study published in The International Journal of Cardiovascular Imaging demonstrated that ...