Oxalate nephropathy is a commonly underrecognized cause of chronic kidney disease and end-stage kidney disease with multiple etiologies, including primary hyperoxaluria, enteric hyperoxaluria, or ingestion...
A recent cross-sectional, observational study compared the tau spread in people with Down syndrome and autosomal-dominant Alzheimer disease to identify tau-related differences between the two groups.
Researchers examined the epidemiology of hydroxymethylbilane synthase (HMBS) gene defects and activity levels among patients with acute intermittent porphyria to better understand the role of HMBS activity...
The FDA has approved a treatment for Friedreich ataxia after the results of randomized, placebo-controlled study indicate a strong effectiveness in treatment.
