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...

Nearly half of the brain MRI scans performed in pediatric endocrinology patients are unnecessary, with repeated imaging often providing no new clinical insights, according to a study that emphasizes the need for clearer...

Although liver transplantation (LT) can reduce cholesterol levels in children and adolescents with homozygous familial hypercholesterolemia (HoFH), it does not achieve target LDL levels or prevent cardiovascular disease, indicating that LT alone is...

Movement disorders (MDs) associated with mitochondrial cytopathies (MCs) exhibit a broad and complex range of symptoms, making diagnosis challenging, according to a poster presented at the 2024 International Congress of Parkinson’s Disease and...

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...