Ruijter GJG - Search Results

1

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.

Bonte R, Bongaerts M, Demirdas S, Langendonk JG, Huidekoper HH, Williams M, Onkenhout W, Jacobs EH, Blom HJ, Ruijter GJG. Bonte R, et al. Among authors: ruijter gjg. Metabolites. 2019 Nov 26;9(12):289. doi: 10.3390/metabo9120289. Metabolites. 2019. PMID: 31779119 Free PMC article.

2

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.

Bongaerts M, Bonte R, Demirdas S, Jacobs EH, Oussoren E, van der Ploeg AT, Wagenmakers MAEM, Hofstra RMW, Blom HJ, Reinders MJT, Ruijter GJG. Bongaerts M, et al. Among authors: ruijter gjg. Metabolites. 2020 Dec 25;11(1):8. doi: 10.3390/metabo11010008. Metabolites. 2020. PMID: 33375624 Free PMC article.

3

Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.

Bongaerts M, Bonte R, Demirdas S, Huidekoper HH, Langendonk J, Wilke M, de Valk W, Blom HJ, Reinders MJT, Ruijter GJG. Bongaerts M, et al. Among authors: ruijter gjg. Mol Genet Metab. 2022 Jul;136(3):199-218. doi: 10.1016/j.ymgme.2022.05.002. Epub 2022 May 25. Mol Genet Metab. 2022. PMID: 35660124 Free article.

4

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.

Hagemeijer MC, Oussoren E, Ruijter GJG, Onkenhout W, Huidekoper HH, Ebberink MS, Waterham HR, Ferdinandusse S, de Vries MC, Huigen MCDG, Kluijtmans LAJ, Coene KLM, Blom HJ. Hagemeijer MC, et al. Among authors: ruijter gjg. JIMD Rep. 2021 May 7;61(1):12-18. doi: 10.1002/jmd2.12223. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485012 Free PMC article.

5

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

Deden AC, van Slegtenhorst MA, Ruijter GJG, Schoonderwoerd GC, Huidekoper HH, Oussoren E, Brooks AS, Demirdas S. Deden AC, et al. Among authors: ruijter gjg. Clin Chim Acta. 2018 Sep;484:231. doi: 10.1016/j.cca.2018.06.003. Epub 2018 Jun 2. Clin Chim Acta. 2018. PMID: 29870682 No abstract available.

6

Mucolipidosis type III, a series of adult patients.

Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M. Oussoren E, et al. Among authors: ruijter gjg. J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27. J Inherit Metab Dis. 2018. PMID: 29704188 Free PMC article.

7

Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.

Ruijter GJ, Mourad-Baars PE, Ristoff E, Onkenhout W, Poorthuis BJ. Ruijter GJ, et al. J Inherit Metab Dis. 2006 Aug;29(4):587. doi: 10.1007/s10545-006-0370-4. Epub 2006 Jul 8. J Inherit Metab Dis. 2006. PMID: 16830260

8

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ, Bonte R, Ozgur Z, van den Hout MC, Schoonderwoerd K, Verheijen FW, van IJcken WF, Chien HF, Barbosa ER, Chang HC, Lai SC, Yeh TH, Lu CS, Wu-Chou YH, Kievit AJ, Han V, Gdovinova Z, Jech R, Hofstra RM, Ruijter GJ, Mandemakers W, Bonifati V. Olgiati S, et al. Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19. Mov Disord. 2016. PMID: 27090768

9

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.

Yadak R, Cabrera-Pérez R, Torres-Torronteras J, Bugiani M, Haeck JC, Huston MW, Bogaerts E, Goffart S, Jacobs EH, Stok M, Leonardelli L, Biasco L, Verdijk RM, Bernsen MR, Ruijter G, Martí R, Wagemaker G, van Til NP, de Coo IFM. Yadak R, et al. Mol Ther Methods Clin Dev. 2018 Jan 8;8:152-165. doi: 10.1016/j.omtm.2018.01.001. eCollection 2018 Mar 16. Mol Ther Methods Clin Dev. 2018. PMID: 29687034 Free PMC article.

10

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, Saris JJ, Häberle J, Caldovic L. Williams M, et al. Among authors: ruijter gjg. Sci Rep. 2018 Oct 18;8(1):15436. doi: 10.1038/s41598-018-33457-0. Sci Rep. 2018. PMID: 30337552 Free PMC article.

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