In patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), high levels of baseline blood urea nitrogen (BUN) are a risk factor for end-stage kidney disease (ESKD) and/or ...

The presence of intracutaneous amyloid deposition in asymptomatic TTR mutation carriers could be a predictive of ATTR-CM progression.

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 ...

Results of the ApproaCH trial showed that navepegritide improved AGV over placebo in pediatric patients with 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.

Özge’s background is in research; she holds a MSc. in Molecular Genetics from the University of Leicester and a PhD. in Developmental Biology from the University of London. Özge worked as a bench ...

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 ...

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

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.

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