Associated Papers
Recent insights into the implications of UGDH mutations for human developmental disease.
Harwood H et al.
Biochemical Society Transactions, 2025
Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.
Suyo C et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
Jiang L et al.
Molecular Genetics & Genomic Medicine, 2023
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