Associated Papers
Recent insights into the implications of UGDH mutations for human developmental disease.
Harwood H et al.
Biochemical Society Transactions, 2025
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.
Plante-Bordeneuve P et al.
American Journal of Medical Genetics. Part A, 2024
Biallelic mutations in UGDH cause congenital microcephaly.
Shu L et al.
Genes & Diseases, 2023
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