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 ...

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 ...

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

The change in extracellular volume is the only predictor of adverse outcome in patients with ATTR-CM treated with tafamidis, a study found.

Age over 75 years was significantly associated with reduced survival and shorter time on treatment. Ibrutinib remains an effective therapy for chronic lymphocytic leukemia (CLL), but older patients ...

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

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 ...

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 ...

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

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

Since I have had a physical disability all my life, limb-girdle muscular dystrophy (LGMD, I don’t know what it’s like to have my own space.

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