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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.
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Lucienne M, Gerlini R, Rathkolb B, Calzada-Wack J, Forny P, Wueest S, Kaech A, Traversi F, Forny M, Bürer C, Aguilar-Pimentel A, Irmler M, Beckers J, Sauer S, Kölker S, Dewulf JP, Bommer GT, Hoces D, Gailus-Durner V, Fuchs H, Rozman J, Froese DS, Baumgartner MR, de Angelis MH. Lucienne M, et al. Among authors: dewulf jp. Hum Mol Genet. 2023 Aug 26;32(17):2717-2734. doi: 10.1093/hmg/ddad100. Hum Mol Genet. 2023. PMID: 37369025 Free PMC article.
Carnitine Deficiency after Long-Term Continuous Renal Replacement Therapy.
Van de Wyngaert C, Dewulf JP, Collienne C, Laterre PF, Hantson P. Van de Wyngaert C, et al. Among authors: dewulf jp. Case Rep Crit Care. 2022 Aug 17;2022:4142539. doi: 10.1155/2022/4142539. eCollection 2022. Case Rep Crit Care. 2022. PMID: 36035086 Free PMC article.
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F. Lausberg E, et al. Among authors: dewulf jp. J Clin Invest. 2021 Jun 15;131(12):e143078. doi: 10.1172/JCI143078. J Clin Invest. 2021. PMID: 33945503 Free PMC article.
19 results