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MPV17: fatal hepatocerebral presentation in a Brazilian infant.
Nogueira C, de Souza CF, Husny A, Derks TG, Santorelli FM, Vilarinho L. Nogueira C, et al. Mol Genet Metab. 2012 Dec;107(4):764. doi: 10.1016/j.ymgme.2012.10.010. Epub 2012 Oct 23. Mol Genet Metab. 2012. PMID: 23137571 No abstract available.
Determination of amylose/amylopectin ratio of starches.
Nalin T, Sperb-Ludwig F, Venema K, Derks TG, Schwartz IV. Nalin T, et al. J Inherit Metab Dis. 2015 Sep;38(5):985-6. doi: 10.1007/s10545-015-9850-8. Epub 2015 Apr 29. J Inherit Metab Dis. 2015. PMID: 25921820 No abstract available.
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
Schwahn BC, Van Spronsen FJ, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, Hennermann JB, Jameson E, König K, McGregor TL, Font-Montgomery E, Santamaria-Araujo JA, Santra S, Vaidya M, Vierzig A, Wassmer E, Weis I, Wong FY, Veldman A, Schwarz G. Schwahn BC, et al. Lancet. 2015 Nov 14;386(10007):1955-1963. doi: 10.1016/S0140-6736(15)00124-5. Epub 2015 Sep 3. Lancet. 2015. PMID: 26343839
Mutations in RARS cause hypomyelination.
Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q. Wolf NI, et al. Ann Neurol. 2014 Jul;76(1):134-9. doi: 10.1002/ana.24167. Epub 2014 May 16. Ann Neurol. 2014. PMID: 24777941
Clinical pathways for inborn errors of metabolism: warranted and feasible.
Demirdas S, van Kessel IN, Korndewal MJ, Hollak CE, Meutgeert H, Klaren A, van Rijn M, van Spronsen FJ, Bosch AM; Dutch working Group. Demirdas S, et al. Orphanet J Rare Dis. 2013 Feb 25;8:37. doi: 10.1186/1750-1172-8-37. Orphanet J Rare Dis. 2013. PMID: 23442887 Free PMC article.
115 results