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,...
Polls & Quizzes
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...
Stay Connected! Join Our Newsletter
Contact
Grandin Library Building
Six Leigh Street
Clinton, New Jersey 08809
+908-505-8899
[email protected]