Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy
Article in American Journal of Medical Genetics Part A (July 2024)
The most recent citing publications are shown below. View all 16 publications that cite this research output on Dimensions.
Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia
Article in Frontiers in Genetics (January 2024)
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations
Article in Molecular Genetics & Genomic Medicine (August 2023)