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

Year Number of Results
2013 2
2014 3
2015 2
2016 2
2017 2
2018 1
2019 7
2020 5
2021 1
2023 2
2024 0

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22 results

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Page 1
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Willems AP, van der Ham M, Schiebergen-Bronkhorst BGM, van Aalderen M, de Barse MMJ, De Gruyter FE, van Hoek IN, Pras-Raves ML, de Sain-van der Velden MGM, Prinsen HCMT, Verhoeven-Duif NM, Jans JJM. Willems AP, et al. Among authors: prinsen hcmt. Front Mol Biosci. 2023 Nov 2;10:1283083. doi: 10.3389/fmolb.2023.1283083. eCollection 2023. Front Mol Biosci. 2023. PMID: 38028537 Free PMC article.
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
Rumping L, Pouwels PJW, Wolf NI, Rehmann H, Wamelink MMC, Waisfisz Q, Jans JJM, Prinsen HCMT, van de Kamp JM, van Hasselt PM. Rumping L, et al. Among authors: prinsen hcmt. JIMD Rep. 2023 Feb 24;64(3):217-222. doi: 10.1002/jmd2.12359. eCollection 2023 May. JIMD Rep. 2023. PMID: 37151363 Free PMC article.
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.
Coene KLM, Timmer C, Goorden SMI, Ten Hoedt AE, Kluijtmans LAJ, Janssen MCH, Rennings AJM, Prinsen HCMT, Wamelink MMC, Ruijter GJG, Körver-Keularts IMLW, Heiner-Fokkema MR, van Spronsen FJ, Hollak CE, Vaz FM, Bosch AM, Huigen MCDG. Coene KLM, et al. Among authors: prinsen hcmt. JIMD Rep. 2020 Nov 22;58(1):70-79. doi: 10.1002/jmd2.12186. eCollection 2021 Mar. JIMD Rep. 2020. PMID: 33728249 Free PMC article.
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.
Kerkhofs MHPM, Haijes HA, Willemsen AM, van Gassen KLI, van der Ham M, Gerrits J, de Sain-van der Velden MGM, Prinsen HCMT, van Deutekom HWM, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Kerkhofs MHPM, et al. Among authors: prinsen hcmt. Metabolites. 2020 May 18;10(5):206. doi: 10.3390/metabo10050206. Metabolites. 2020. PMID: 32443577 Free PMC article.
Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation.
van den Broek BTA, van Egmond-Ebbeling MB, Achterberg JA, Boelens JJ, Vlessert IC, Prinsen HCMT, van Doorn J, van Hasselt PM. van den Broek BTA, et al. Among authors: prinsen hcmt. Biol Blood Marrow Transplant. 2020 May;26(5):928-935. doi: 10.1016/j.bbmt.2019.11.025. Epub 2019 Nov 29. Biol Blood Marrow Transplant. 2020. PMID: 31786241 Free article.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Among authors: prinsen hcmt. Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9. Mol Genet Metab. 2019. PMID: 31311714
22 results