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154 results

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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.
Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.
de Sain-van der Velden MG, van der Ham M, Verhoeven-Duif NM, Visser G, van Hasselt PM. de Sain-van der Velden MG, et al. Among authors: van hasselt pm, van der ham m. J Inherit Metab Dis. 2014 Jul;37(4):651-2. doi: 10.1007/s10545-014-9706-7. Epub 2014 Apr 3. J Inherit Metab Dis. 2014. PMID: 24696407 No abstract available.
Monocarboxylate transporter 1 deficiency and ketone utilization.
van Hasselt PM, Ferdinandusse S, Monroe GR, Ruiter JP, Turkenburg M, Geerlings MJ, Duran K, Harakalova M, van der Zwaag B, Monavari AA, Okur I, Sharrard MJ, Cleary M, O'Connell N, Walker V, Rubio-Gozalbo ME, de Vries MC, Visser G, Houwen RH, van der Smagt JJ, Verhoeven-Duif NM, Wanders RJ, van Haaften G. van Hasselt PM, et al. Among authors: van der zwaag b, van haaften g, van der smagt jj. N Engl J Med. 2014 Nov 13;371(20):1900-7. doi: 10.1056/NEJMoa1407778. N Engl J Med. 2014. PMID: 25390740 Free article.
Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots.
de Sain-van der Velden MGM, van der Ham M, Jans JJ, Visser G, van Hasselt PM, Prinsen HCMT, Verhoeven-Duif NM. de Sain-van der Velden MGM, et al. Among authors: van hasselt pm, van der ham m. Anal Chim Acta. 2015 Jan 1;853:435-441. doi: 10.1016/j.aca.2014.10.043. Epub 2014 Oct 31. Anal Chim Acta. 2015. PMID: 25467488
Vitamin B6 in plasma and cerebrospinal fluid of children.
Albersen M, Bosma M, Jans JJ, Hofstede FC, van Hasselt PM, de Sain-van der Velden MG, Visser G, Verhoeven-Duif NM. Albersen M, et al. Among authors: van hasselt pm. PLoS One. 2015 Mar 11;10(3):e0120972. doi: 10.1371/journal.pone.0120972. eCollection 2015. PLoS One. 2015. PMID: 25760040 Free PMC article.
154 results