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Page 1
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism.
van Outersterp RE, Kooijman PC, Merx J, Engelke UFH, Omidikia N, Tonneijck MH, Houthuijs KJ, Berden G, Peters TMA, Lefeber DJ, Willemsen MAAP, Mecinovic J, Jansen JJ, Coene KLM, Wevers RA, Boltje TJ, Oomens J, Martens J. van Outersterp RE, et al. Among authors: lefeber dj. Anal Chem. 2023 Jul 4;95(26):9787-9796. doi: 10.1021/acs.analchem.3c00363. Epub 2023 Jun 21. Anal Chem. 2023. PMID: 37341384 Free PMC article.
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V, Barone R, Grunewald S, Tesařová M, Hansíková H, Augustínová J, Sykut-Cegielska J, De Nictolis F, Diaz-Moreno U, Elangovan R, Epifani F, Gasperini S, Jansen M, Lefeber D, Maksym-Gasiorek D, Diego M, Ounap K, Pettinato F, Põder H, Rymen D, Vals MA, Serrano M, Witters P, Honzík T. Holubova V, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12826. doi: 10.1002/jimd.12826. Epub 2024 Dec 5. J Inherit Metab Dis. 2025. PMID: 39633515
Oral ribose supplementation in dystroglycanopathy: A single case study.
Thewissen RMJ, Post MA, Maas DM, Veizaj R, Wagenaar I, Alsady M, Kools J, Bouman K, Zweers H, Meregalli PG, van der Kooi AJ, van Doorn PA, Groothuis JT, Lefeber DJ, Voermans NC. Thewissen RMJ, et al. Among authors: lefeber dj. JIMD Rep. 2024 Mar 4;65(3):171-181. doi: 10.1002/jmd2.12394. eCollection 2024 May. JIMD Rep. 2024. PMID: 38736632 Free PMC article.
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Conte F, Ashikov A, Mijdam R, van de Ven EGP, van Scherpenzeel M, Veizaj R, Mahalleh-Yousefi SP, Post MA, Huijben K, Panneman DM, Rodenburg RJT, Voermans NC, Garanto A, Koopman WJH, Wessels HJCT, Noga MJ, Lefeber DJ. Conte F, et al. Among authors: lefeber dj. Int J Mol Sci. 2023 May 4;24(9):8247. doi: 10.3390/ijms24098247. Int J Mol Sci. 2023. PMID: 37175952 Free PMC article.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Morales-Romero B, Muñoz-Pujol G, Artuch R, García-Cazorla A, O'Callaghan M, Sykut-Cegielska J, Campistol J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J, Tort F. Morales-Romero B, et al. Among authors: lefeber dj. Mol Genet Metab. 2024 Jul;142(3):108511. doi: 10.1016/j.ymgme.2024.108511. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38878498
202 results