Associated Papers
Recent insights into the implications of UGDH mutations for human developmental disease.
Harwood H et al.
Biochemical Society Transactions, 2025
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H et al.
Nature Communications, 2020
32001716 (PubMed )
Supplement: 41467_2020_14360_MOESM1_ESM.pdf
UDP-glucose dehydrogenase polymorphisms from patients with congenital heart valve defects disrupt enzyme stability and quaternary assembly.
Hyde AS et al.
The Journal of Biological Chemistry, 2012
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