A multidisciplinary approach to managing Alagille syndrome, particularly in patients with advanced liver disease and peripheral pulmonary artery stenosis, can lead to successful surgical outcomes, according to a study that demonstrated that extensive...

Shortening the L-DOPA provocative test for diagnosing growth hormone deficiency (GHD) in children to 90 minutes is feasible but reduces the test's specificity, especially when using the higher international growth hormone cut-off (10...

Specific lipid abnormalities in patients with familial hypercholesterolemia (FH) have been identified, which could serve as biomarkers for developing targeted therapies to prevent premature atherosclerotic cardiovascular disease, according to a study. Researchers investigated...

Astroglial activation occurs in individuals with Smith-Lemli-Opitz syndrome (SLOS), and cerebrospinal fluid (CSF) levels of glial fibrillary acidic protein (GFAP) could serve as a useful biomarker to monitor therapeutic responses, according to a...

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...

Significant diagnostic delays are often experienced by patients with primary hyperoxalurias (PH) with a discrepancy in diagnostic timelines between children and adults, according to a study. The observational and retrospective study analyzed data...