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Year Number of Results
2013 2
2014 3
2015 2
2016 2
2017 2
2018 1
2019 7
2020 3
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Page 1
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry.
Prinsen HCMT, Schiebergen-Bronkhorst BGM, Roeleveld MW, Jans JJM, de Sain-van der Velden MGM, Visser G, van Hasselt PM, Verhoeven-Duif NM. Prinsen HCMT, et al. J Inherit Metab Dis. 2016 Sep;39(5):651-660. doi: 10.1007/s10545-016-9935-z. Epub 2016 Apr 21. J Inherit Metab Dis. 2016. PMID: 27099181 Free PMC article.
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
Haijes HA, Prinsen HCMT, de Sain-van der Velden MGM, Verhoeven-Duif NM, van Hasselt PM, Jans JJM. Haijes HA, et al. Among authors: prinsen hcmt. Mol Genet Metab Rep. 2019 Dec 27;22:100551. doi: 10.1016/j.ymgmr.2019.100551. eCollection 2020 Mar. Mol Genet Metab Rep. 2019. PMID: 31908951 Free PMC article.
Farnesoid X Receptor Activation Promotes Hepatic Amino Acid Catabolism and Ammonium Clearance in Mice.
Massafra V, Milona A, Vos HR, Ramos RJJ, Gerrits J, Willemsen ECL, Ramos Pittol JM, Ijssennagger N, Houweling M, Prinsen HCMT, Verhoeven-Duif NM, Burgering BMT, van Mil SWC. Massafra V, et al. Among authors: prinsen hcmt. Gastroenterology. 2017 May;152(6):1462-1476.e10. doi: 10.1053/j.gastro.2017.01.014. Epub 2017 Jan 25. Gastroenterology. 2017. PMID: 28130067 Free 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
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
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.
de Sain-van der Velden MGM, Kuper WFE, Kuijper MA, van Kats LAT, Prinsen HCMT, Balemans ACJ, Visser G, van Gassen KLI, van Hasselt PM. de Sain-van der Velden MGM, et al. Among authors: prinsen hcmt. JIMD Rep. 2018;42:99-103. doi: 10.1007/8904_2017_86. Epub 2018 Jan 30. JIMD Rep. 2018. PMID: 29380259 Free PMC article.
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
Rumping L, B├╝ttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R. Rumping L, et al. Among authors: prinsen hcmt. JAMA Neurol. 2019 Mar 1;76(3):342-350. doi: 10.1001/jamaneurol.2018.2941. JAMA Neurol. 2019. PMID: 30575854 Free PMC article.
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.
Haijes HA, Willemsen M, Van der Ham M, Gerrits J, Pras-Raves ML, Prinsen HCMT, Van Hasselt PM, De Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Among authors: prinsen hcmt. Metabolites. 2019 Jan 11;9(1):12. doi: 10.3390/metabo9010012. Metabolites. 2019. PMID: 30641898 Free PMC article.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM. Rumping L, et al. Among authors: prinsen hcmt. Hum Mol Genet. 2019 Jan 1;28(1):96-104. doi: 10.1093/hmg/ddy330. Hum Mol Genet. 2019. PMID: 30239721
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid.
Haijes HA, van der Ham M, Gerrits J, van Hasselt PM, Prinsen HCMT, de Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Among authors: prinsen hcmt. Mol Genet Metab. 2019 May;127(1):51-57. doi: 10.1016/j.ymgme.2019.03.005. Epub 2019 Mar 15. Mol Genet Metab. 2019. PMID: 30926434 Free article.
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