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Year Number of Results
2002 1
2004 1
2005 2
2006 2
2009 1
2010 1
2011 5
2012 7
2013 5
2014 3
2015 6
2016 7
2017 6
2018 4
2019 9
2020 11
2021 5
2022 8
2023 4
2024 2

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Page 1
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
Stepien KM, Langendonk JG, Dao M, Gomes DC, Douillard C, Filipsson K, Glamuzina E, Haverkamp JA, Langeveld M, Lehman A, de Lonlay P, Lund AM, Oscarson M, Peltenburg NC, Ramadža DP, Ramachandran R, Reismann P, Shtylla A, Tchan M, Tan CY, Wilson C, Woodall A, Murphy E, Wagenmakers MAEM. Stepien KM, et al. Among authors: langendonk jg. J Inherit Metab Dis. 2023 Dec 9. doi: 10.1002/jimd.12695. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 38069502
Dersimelagon in Erythropoietic Protoporphyrias.
Barman-Aksözen J, Langendonk JG. Barman-Aksözen J, et al. Among authors: langendonk jg. N Engl J Med. 2023 Jun 29;388(26):2492. doi: 10.1056/NEJMc2305601. N Engl J Med. 2023. PMID: 37379150 No abstract available.
Primary carnitine deficiency is a life-long disease.
Crefcoeur LL, Melles MC, Bruning TA, Pereira RR, Langendonk JG. Crefcoeur LL, et al. Among authors: langendonk jg. JIMD Rep. 2022 Jul 27;63(6):524-528. doi: 10.1002/jmd2.12319. eCollection 2022 Nov. JIMD Rep. 2022. PMID: 36341172 Free PMC article.
High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia.
Haring MPD, Peeks F, Oosterveer MH, Brouwers MCGJ, Hollak CEM, Janssen MCH, Langendonk JG, Rennings AJM, Wagenmakers MAEM, Verkade HJ, Derks TGJ, de Meijer VE. Haring MPD, et al. Among authors: langendonk jg. JHEP Rep. 2022 May 29;4(8):100512. doi: 10.1016/j.jhepr.2022.100512. eCollection 2022 Aug. JHEP Rep. 2022. PMID: 35811762 Free PMC article.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: langendonk jg. J Inherit Metab Dis. 2022 Sep;45(5):952-962. doi: 10.1002/jimd.12528. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35722880 Free PMC article.
75 results