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Disorders of purine biosynthesis metabolism.
Dewulf JP, Marie S, Nassogne MC. Dewulf JP, et al. Mol Genet Metab. 2022 Jul;136(3):190-198. doi: 10.1016/j.ymgme.2021.12.016. Epub 2021 Dec 30. Mol Genet Metab. 2022. PMID: 34998670 Review.
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M. Dewulf JP, et al. Ann Neurol. 2019 Mar;85(3):385-395. doi: 10.1002/ana.25412. Epub 2019 Jan 29. Ann Neurol. 2019. PMID: 30635937
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Boemer F, Caberg JH, Beckers P, Dideberg V, di Fiore S, Bours V, Marie S, Dewulf J, Marcelis L, Deconinck N, Daron A, Blasco-Perez L, Tizzano E, Hiligsmann M, Lombet J, Pereira T, Lopez-Granados L, Shalchian-Tehran S, van Assche V, Willems A, Huybrechts S, Mast B, van Olden R, Dangouloff T, Servais L. Boemer F, et al. Sci Rep. 2021 Oct 7;11(1):19922. doi: 10.1038/s41598-021-99496-2. Sci Rep. 2021. PMID: 34620959 Free PMC article.
30 results