In a comprehensive long-term study aimed at shedding light on homozygous familial hypercholesterolemia (HoFH), researchers have provided crucial insights into the clinical and genetic characteristics of the condition, as well as its management...
There is a significant prevalence of ocular surgeries among patients with inherited retinal diseases (IRDs), with approximately one-third of patients having undergone such procedures, according to a study. Cataract extraction with intraocular lens...
Seladelpar, a peroxisome proliferator-activated receptor delta agonist, has demonstrated significant efficacy in treating primary biliary cholangitis (PBC), according to results of a Phase 3 trial. The trial showed that seladelpar resulted in a...
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Patients with Smith-Lemli-Opitz syndrome (SLOS) with low plasma cholesterol levels treated with cholic acid supplementation experienced a significant increase in plasma cholesterol levels after 2 months, according to a pilot study. The standard...
Combined liver-kidney transplantation (CLKT) and kidney after liver transplantation (KALT) show promise in treating oxalate bone disease in pediatric patients with primary hyperoxaluria type 1 (PH1), according to a study. The study highlights...
Radiotherapy increases risk of thoracic STS in breast cancer survivors Amongst 2 cohorts of US breast cancer survivors, radiotherapy was found to be the strongest risk factor for developing thoracic soft tissue sarcoma...