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Page 1
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.
Expanding the clinical phenotype of COG6 deficiency.
Haijes H, Prinsen HC, Thiel C, Koerner C, Verhoeven-Duif NM, van Hasselt PM. Haijes H, et al. J Med Genet. 2014 Jun;51(6):425. doi: 10.1136/jmedgenet-2014-102329. Epub 2014 Mar 25. J Med Genet. 2014. PMID: 24667119 No abstract available.
Key features and clinical variability of COG6-CDG.
Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokçay G, Haijes H, Goyens P, Tokatli A, Thiel C, Bartsch O, Hecht J, Krawitz P, Prinsen HC, Mildenberger E, Matthijs G, Kornak U. Rymen D, et al. Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29. Mol Genet Metab. 2015. PMID: 26260076
A New Approach for Fast Metabolic Diagnostics in CMAMMA.
de Sain-van der Velden MG, van der Ham M, Jans JJ, Visser G, Prinsen HC, Verhoeven-Duif NM, van Gassen KL, van Hasselt PM. de Sain-van der Velden MG, et al. JIMD Rep. 2016;30:15-22. doi: 10.1007/8904_2016_531. Epub 2016 Feb 27. JIMD Rep. 2016. PMID: 26915364 Free PMC article.
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.
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
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
Rumping L, Büttner 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.
29 results