Ruijter GJ - Search Results

1

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. Among authors: ruijter gj. Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19. Mov Disord. 2016. PMID: 27090768

2

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

van den Bosch J, Oemardien LF, Srebniak MI, Piraud M, Huijmans JG, Verheijen FW, Ruijter GJ. van den Bosch J, et al. Among authors: ruijter gj. J Inherit Metab Dis. 2011 Oct;34(5):1069-73. doi: 10.1007/s10545-011-9351-3. Epub 2011 May 27. J Inherit Metab Dis. 2011. PMID: 21617927 Free PMC article.

3

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.

Kuil LE, López Martí A, Carreras Mascaro A, van den Bosch JC, van den Berg P, van der Linde HC, Schoonderwoerd K, Ruijter GJG, van Ham TJ. Kuil LE, et al. Glia. 2019 Sep;67(9):1705-1718. doi: 10.1002/glia.23641. Epub 2019 May 29. Glia. 2019. PMID: 31140649 Free PMC article.

4

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. Metabolites. 2020 Dec 25;11(1):8. doi: 10.3390/metabo11010008. Metabolites. 2020. PMID: 33375624 Free PMC article.

5

Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots.

Oemardien LF, Boer AM, Ruijter GJ, van der Ploeg AT, de Klerk JB, Reuser AJ, Verheijen FW. Oemardien LF, et al. Among authors: ruijter gj. Mol Genet Metab. 2011 Jan;102(1):44-8. doi: 10.1016/j.ymgme.2010.09.008. Epub 2010 Sep 26. Mol Genet Metab. 2011. PMID: 20947400

6

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. Metabolites. 2019 Nov 26;9(12):289. doi: 10.3390/metabo9120289. Metabolites. 2019. PMID: 31779119 Free PMC article.

7

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.

8

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS. Wamelink MM, et al. Among authors: ruijter gj. J Inherit Metab Dis. 2015 Sep;38(5):889-94. doi: 10.1007/s10545-014-9809-1. Epub 2015 Feb 3. J Inherit Metab Dis. 2015. PMID: 25647543 Free PMC article.

9

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA. Ruijter GJ, et al. Mol Genet Metab. 2008 Feb;93(2):104-11. doi: 10.1016/j.ymgme.2007.09.011. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024218

10

Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.

Eleftheriadou M, Medici-van den Herik E, Stuurman K, van Bever Y, Hellebrekers DMEI, van Slegtenhorst M, Ruijter G, Barakat TS. Eleftheriadou M, et al. Mol Genet Genomic Med. 2021 Feb;9(2):e1595. doi: 10.1002/mgg3.1595. Epub 2021 Jan 11. Mol Genet Genomic Med. 2021. PMID: 33432785 Free PMC article.

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