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Page 1
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Vázquez-Domínguez I, Duijkers L, Fadaie Z, Alaerds ECW, Post MA, van Oosten EM, O'Gorman L, Kwint M, Koolen L, Hoogendoorn ADM, Kroes HY, Gilissen C, Cremers FPM, Collin RWJ, Roosing S, Garanto A. Vázquez-Domínguez I, et al. Among authors: post ma. Cells. 2022 Nov 17;11(22):3640. doi: 10.3390/cells11223640. Cells. 2022. PMID: 36429068 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: post ma. Int J Mol Sci. 2023 May 4;24(9):8247. doi: 10.3390/ijms24098247. Int J Mol Sci. 2023. PMID: 37175952 Free PMC article.
Clinical glycomics in the diagnostic laboratory.
Post MA, Lefeber DJ. Post MA, et al. Ann Transl Med. 2019 Sep;7(Suppl 6):S220. doi: 10.21037/atm.2019.08.74. Ann Transl Med. 2019. PMID: 31656799 Free PMC article. No abstract available.
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: post ma. 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.
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
den Hollander B, Rasing A, Post MA, Klein WM, Oud MM, Brands MM, de Boer L, Engelke UFH, van Essen P, Fuchs SA, Haaxma CA, Jensson BO, Kluijtmans LAJ, Lengyel A, Lichtenbelt KD, Østergaard E, Peters G, Salvarinova R, Simon MEH, Stefansson K, Thorarensen Ó, Ulmen U, Coene KLM, Willemsen MA, Lefeber DJ, van Karnebeek CDM. den Hollander B, et al. Among authors: post ma. Front Neurol. 2021 Jun 7;12:668640. doi: 10.3389/fneur.2021.668640. eCollection 2021. Front Neurol. 2021. PMID: 34163424 Free PMC article.
N-linked glycosylation of the M-protein variable region: glycoproteogenomics reveals a new layer of personalized complexity in multiple myeloma.
Langerhorst P, Baerenfaenger M, Kulkarni P, Nadal S, Wijnands C, Post MA, Noori S, vanDuijn MM, Joosten I, Dejoie T, van Gool AJ, Gloerich J, Lefeber DJ, Wessels HJCT, Jacobs JFM. Langerhorst P, et al. Among authors: post ma. Clin Chem Lab Med. 2024 Feb 9;62(8):1626-1635. doi: 10.1515/cclm-2023-1189. Print 2024 Jul 26. Clin Chem Lab Med. 2024. PMID: 38332688 Free article.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
Post MA, de Wit I, Zijlstra FSM, Engelke UFH, van Rooij A, Christodoulou J, Tan TY, Le Fevre A, Jin D, Yaplito-Lee J, Lee BH, Low KJ, Mallick AA, Õunap K, Pitt J, Reardon W, Vals MA, Wortmann SB, Wessels HJCT, Bärenfänger M, van Karnebeek CDM, Lefeber DJ. Post MA, et al. J Inherit Metab Dis. 2023 Mar;46(2):313-325. doi: 10.1002/jimd.12588. Epub 2023 Feb 1. J Inherit Metab Dis. 2023. PMID: 36651519
17 results