Category: Clinical case report

11-10-2018

Background: Distal renal tubular acidosis (dRTA) with hearing impairment is an inherited disease caused by mutations in the ATP6V1B1 or…

07-09-2018

Introduction Prader-Willi syndrome (PWS) is a rare condition characterized by hypothalamic dysfunction (leading to hyperphagia, abnormal temperature regulation, abnormal pain registration…