Patients with immunoglobulin-G4-related disease (IgG4-RD) have high adherence to SARS-CoV-2 vaccination, with a generally favorable safety profile comparable to healthy controls, according to a study. Researchers surveyed 20 patients with IgG4-RD and 40...

Lonapegsomatropin provides a promising option for managing pediatric growth hormone deficiency (GHD) with less frequent injections, but careful dose adjustments and monitoring of IGF-1 levels are essential to ensure effective and safe treatment,...

Whole blood can serve as a reliable alternative to plasma for diagnosing Smith-Lemli-Opitz syndrome (SLOS), according to a study. Researchers investigated the correlation and transference ratio of 7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) between...

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...