Adults with growth hormone deficiency (AGHD) exhibit varying patterns of bone mineral density (BMD) changes based on the age at which the deficiency onset occurs, according to a new study. Specifically, the study...
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disease in which a low-density lipoprotein-C receptor (LDLR) malfunction hinders its ability to clear LDL-C from the bloodstream sufficiently, resulting in severely elevated low-density lipoprotein...
Micafungin administration following pediatric living-donor liver transplantation (LDLT) is both safe and effective, according to a study. Children undergoing LDLT often require long-term antibiotic treatment, but the appropriate dosage of micafungin post-transplantation had...
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By employing remote study design, advanced genomic sequencing techniques, and extensive collaboration, the Rare Genomes Project (RGP) is making significant strides in diagnosing rare diseases, offering hope and support to families navigating the...
While genetic testing is on the rise – and showing promise for patient selection – innovative treatment options are lagging. But some breakthroughs could soon emerge Inherited retinal diseases (IRDs) are a group...
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...