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Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Hagemeijer MC, Oussoren E, Ruijter GJG, Onkenhout W, Huidekoper HH, Ebberink MS, Waterham HR, Ferdinandusse S, de Vries MC, Huigen MCDG, Kluijtmans LAJ, Coene KLM, Blom HJ. Hagemeijer MC, et al. Among authors: onkenhout w. JIMD Rep. 2021 May 7;61(1):12-18. doi: 10.1002/jmd2.12223. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485012 Free PMC article.
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature.
Molema F, Williams M, Langendonk J, Darwish-Murad S, van de Wetering J, Jacobs E, Onkenhout W, Brusse E, van der Eerden A, Wagenmakers M. Molema F, et al. Among authors: onkenhout w. JIMD Rep. 2020 Jan 22;51(1):89-104. doi: 10.1002/jmd2.12088. eCollection 2020 Jan. JIMD Rep. 2020. PMID: 32071844 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: onkenhout w. JIMD Rep. 2016;30:23-31. doi: 10.1007/8904_2016_533. Epub 2016 Feb 23. JIMD Rep. 2016. PMID: 26898293 Free PMC article.
Adenylosuccinase deficiency presenting with epilepsy in early infancy.
Maaswinkel-Mooij PD, Laan LA, Onkenhout W, Brouwer OF, Jaeken J, Poorthuis BJ. Maaswinkel-Mooij PD, et al. Among authors: onkenhout w. J Inherit Metab Dis. 1997 Aug;20(4):606-7. doi: 10.1023/a:1005323512982. J Inherit Metab Dis. 1997. PMID: 9266401 No abstract available.
50 results