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Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Among authors: van hasselt pm, van der ham m, van karnebeek cdm. Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9. Mol Genet Metab. 2019. PMID: 31311714
Perioperative measures in very long chain acyl-CoA dehydrogenase deficiency.
Vellekoop P, Diekman EF, van Tuijl I, de Vries MM, van Hasselt PM, Visser G. Vellekoop P, et al. Among authors: van hasselt pm, van tuijl i. Mol Genet Metab. 2011 May;103(1):96-7. doi: 10.1016/j.ymgme.2011.01.010. Epub 2011 Jan 27. Mol Genet Metab. 2011. PMID: 21333574
Metabolic profiles in children during fasting.
van Veen MR, van Hasselt PM, de Sain-van der Velden MG, Verhoeven N, Hofstede FC, de Koning TJ, Visser G. van Veen MR, et al. Among authors: van hasselt pm. Pediatrics. 2011 Apr;127(4):e1021-7. doi: 10.1542/peds.2010-1706. Epub 2011 Mar 21. Pediatrics. 2011. PMID: 21422093
Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.
Bendadi F, de Koning TJ, Visser G, Prinsen HC, de Sain MG, Verhoeven-Duif N, Sinnema G, van Spronsen FJ, van Hasselt PM. Bendadi F, et al. Among authors: van hasselt pm, van spronsen fj. J Pediatr. 2014 Feb;164(2):398-401. doi: 10.1016/j.jpeds.2013.10.001. Epub 2013 Nov 14. J Pediatr. 2014. PMID: 24238861 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. Among authors: van hasselt pm. 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.
154 results