Alhamoudi KM et al. A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia. Front Pediatr. 2020;8:71. PMID 32175296.
Hengel H et al. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020;11(1):595. PMD: 32001716.
Perenthaler E et al. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathol. 2020;139(3):415-442. PMID 31820119.