A recent study conducted by the Childhood Liver Disease Research Network has found a high prevalence of severe sarcopenia in school-aged children with genetic intrahepatic cholestasis, particularly in those with chronic intrahepatic cholestasis...

A comprehensive study on RP2-associated retinopathy found a diverse range of manifestations in female carriers of the RP2 gene, including exhibiting subtle characteristics such as tapetal-like reflex and pigmentary changes, a significant finding...

In a recent video, Dr. Ellen Elias, a clinical geneticist specializing in neurodevelopmental disabilities and pediatrics provides a detailed exploration of Smith-Lemli-Opitz Syndrome (SLOS), covering its discovery, clinical manifestations, biochemical basis, diagnosis, management,...

Primary hyperoxaluria (PH), a rare monogenic disorder associated with frequent kidney stone events and an increased risk of chronic kidney disease, significantly impacts the quality of life (QoL) of affected individuals, according to...

A retrospective audit on patients with Graves' disease undergoing radioactive iodine (RAI) treatment revealed a lower incidence of Graves' orbitopathy (GO) than previously observed. The study emphasized the importance of assessing patients for...