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Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
D-serine in the developing human central nervous system.
Fuchs SA, Dorland L, de Sain-van der Velden MG, Hendriks M, Klomp LW, Berger R, de Koning TJ. Fuchs SA, et al. Ann Neurol. 2006 Oct;60(4):476-80. doi: 10.1002/ana.20977. Ann Neurol. 2006. PMID: 17068790
Quantification of free and total sialic acid excretion by LC-MS/MS.
van der Ham M, Prinsen BH, Huijmans JG, Abeling NG, Dorland B, Berger R, de Koning TJ, de Sain-van der Velden MG. van der Ham M, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Apr 1;848(2):251-7. doi: 10.1016/j.jchromb.2006.10.066. Epub 2006 Nov 22. J Chromatogr B Analyt Technol Biomed Life Sci. 2007. PMID: 17123874
Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.
Aldenhoven M, de Koning TJ, Verheijen FW, Prinsen BH, Wijburg FA, van der Ploeg AT, de Sain-van der Velden MG, Boelens J. Aldenhoven M, et al. Biol Blood Marrow Transplant. 2010 May;16(5):701-4. doi: 10.1016/j.bbmt.2010.01.006. Epub 2010 Jan 21. Biol Blood Marrow Transplant. 2010. PMID: 20096360 Free article.
101 results