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Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Among authors: wevers ra. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors. Wortmann SB, et al. Among authors: wevers ra. J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15. J Inherit Metab Dis. 2017. PMID: 28205048 Free PMC article.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, García-Cazorla À, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Tokatly Latzer I, et al. Among authors: wevers ra. Mol Genet Metab. 2024 May;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Epub 2024 Mar 4. Mol Genet Metab. 2024. PMID: 38452608
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Vaz FM, Staps P, van Klinken JB, van Lenthe H, Vervaart M, Wanders RJA, Pras-Raves ML, van Weeghel M, Salomons GS, Ferdinandusse S, Wevers RA, Willemsen MAAP. Vaz FM, et al. Among authors: wevers ra. Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Mar;1869(2):159447. doi: 10.1016/j.bbalip.2023.159447. Epub 2024 Jan 3. Biochim Biophys Acta Mol Cell Biol Lipids. 2024. PMID: 38181883 Free article.
478 results