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Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.
Mørkrid L, Rowe AD, Elgstoen KB, Olesen JH, Ruijter G, Hall PL, Tortorelli S, Schulze A, Kyriakopoulou L, Wamelink MM, van de Kamp JM, Salomons GS, Rinaldo P. Mørkrid L, et al. Among authors: ruijter g. Clin Chem. 2015 May;61(5):760-8. doi: 10.1373/clinchem.2014.235564. Epub 2015 Mar 10. Clin Chem. 2015. PMID: 25759465 Free article.
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.
Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases.
Sluiter W, van den Bosch JC, Goudriaan DA, van Gelder CM, de Vries JM, Huijmans JG, Reuser AJ, van der Ploeg AT, Ruijter GJ. Sluiter W, et al. Among authors: ruijter gj. Clin Chem. 2012 Jul;58(7):1139-47. doi: 10.1373/clinchem.2011.178319. Epub 2012 May 23. Clin Chem. 2012. PMID: 22623745 Free 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: ruijter gjg. 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.
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Sala PR, Ruijter G, Acquaviva C, Chabli A, de Sain-van der Velden MG, Garcia-Villoria J, Heiner-Fokkema MR, Jeannesson-Thivisol E, Leckstrom K, Franzson L, Lynes G, Olesen J, Onkenhout W, Petrou P, Drousiotou A, Ribes A, Vianey-Saban C, Merinero B. Sala PR, et al. Among authors: ruijter g. JIMD Rep. 2016;30:23-31. doi: 10.1007/8904_2016_533. Epub 2016 Feb 23. JIMD Rep. 2016. PMID: 26898293 Free PMC article.
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.
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA. van de Kamp JM, et al. Among authors: ruijter gj. J Med Genet. 2007 Apr;44(4):277-80. doi: 10.1136/jmg.2006.044735. Epub 2006 Dec 8. J Med Genet. 2007. PMID: 17158594 Free PMC article.
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP. Valstar MJ, et al. Among authors: ruijter gj. Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234. Hum Mutat. 2010. PMID: 20232353
Sanfilippo syndrome: a mini-review.
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Valstar MJ, et al. Among authors: ruijter gj. J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392742 Review.
89 results