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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 2
2007 1
2009 2
2010 1
2011 1
2012 2
2013 2
2014 3
2015 3
2016 7
2017 5
2018 6
2019 3
2020 3
2021 2
2022 2
2023 3
2024 1

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45 results

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Page 1
NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.
Jansen JC, Wolthuis D, Van Scherpenzeel M, Ratziu V, Drenth JPH, Lefeber DJ. Jansen JC, et al. Among authors: van scherpenzeel m. Cell Mol Gastroenterol Hepatol. 2018 Jan 18;5(3):415-417.e1. doi: 10.1016/j.jcmgh.2017.12.011. eCollection 2018 Mar. Cell Mol Gastroenterol Hepatol. 2018. PMID: 29675453 Free PMC article. No abstract available.
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Among authors: van scherpenzeel m. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.
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: van scherpenzeel m. Int J Mol Sci. 2023 May 4;24(9):8247. doi: 10.3390/ijms24098247. Int J Mol Sci. 2023. PMID: 37175952 Free PMC article.
Year-Round Respiratory Syncytial Virus Transmission in The Netherlands Following the COVID-19 Pandemic: A Prospective Nationwide Observational and Modeling Study.
Löwensteyn YN, Zheng Z, Rave N, Bannier MAGE, Billard MN, Casalegno JS, Pitzer VE, Wildenbeest JG, Weinberger DM, Bont L; Surveillance of Pediatric REspiratory Admissions in Dutch hospitals (SPREAD) Study Group. Löwensteyn YN, et al. J Infect Dis. 2023 Nov 11;228(10):1394-1399. doi: 10.1093/infdis/jiad282. J Infect Dis. 2023. PMID: 37477906 Free PMC article.
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.
Martens J, Berden G, Bentlage H, Coene KLM, Engelke UF, Wishart D, van Scherpenzeel M, Kluijtmans LAJ, Wevers RA, Oomens J. Martens J, et al. Among authors: van scherpenzeel m. J Inherit Metab Dis. 2018 May;41(3):367-377. doi: 10.1007/s10545-018-0161-8. Epub 2018 Mar 19. J Inherit Metab Dis. 2018. PMID: 29556837 Free PMC article. Review.
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.
van Scherpenzeel M, Conte F, Büll C, Ashikov A, Hermans E, Willems A, van Tol W, Kragt E, Noga M, Moret EE, Heise T, Langereis JD, Rossing E, Zimmermann M, Rubio-Gozalbo ME, de Jonge MI, Adema GJ, Zamboni N, Boltje T, Lefeber DJ. van Scherpenzeel M, et al. Glycobiology. 2022 Mar 30;32(3):239-250. doi: 10.1093/glycob/cwab106. Glycobiology. 2022. PMID: 34939087 Free PMC article.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Tegtmeyer LC, et al. Among authors: van scherpenzeel m. N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605. N Engl J Med. 2014. PMID: 24499211 Free PMC article.
45 results