Growth hormone (GH) therapy significantly improves height outcomes in children with idiopathic growth hormone deficiency (GHD), and a newly developed predictive model accurately estimates individual growth responses during the first 2 years of...

In patients with homozygous familial hypercholesterolemia (HoFH), specific risk factors for atherosclerotic cardiovascular disease (ASCVD) differ by sex, according to a study that found that while elevated LDL-C levels significantly increase ASCVD risk...

Researchers have developed a simple, rapid, and reliable liquid chromatography tandem mass spectrometry (LC-MS/MS) method for measuring diagnostically important sterols in blood, which can improve the diagnosis and monitoring of rare lipid disorders...

While sponsored genetic testing panels improve access to molecular diagnosis for inherited retinal diseases (IRD), significant challenges remain, including varying positivity rates between providers, discrepancies in variant classification (especially for variants of unknown...