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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.
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
Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study.
Demirdas S, Maurice-Stam H, Boelen CC, Hofstede FC, Janssen MC, Langendonk JG, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, de Vries M, Grootenhuis MA, Bosch AM. Demirdas S, et al. Among authors: langendonk jg. Mol Genet Metab. 2013;110 Suppl:S49-56. doi: 10.1016/j.ymgme.2013.09.015. Epub 2013 Sep 25. Mol Genet Metab. 2013. PMID: 24100246
Mucolipidosis type III, a series of adult patients.
Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M. Oussoren E, et al. Among authors: langendonk jg. J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27. J Inherit Metab Dis. 2018. PMID: 29704188 Free PMC article.
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Welsink-Karssies MM, van Harskamp D, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, Kemper EM, Langendonk JG, Rubio-Gozalbo ME, de Vries MC, Wijburg FA, Schierbeek H, Bosch AM. Welsink-Karssies MM, et al. J Inherit Metab Dis. 2020 May;43(3):507-517. doi: 10.1002/jimd.12207. Epub 2020 Jan 22. J Inherit Metab Dis. 2020. PMID: 31845337 Free PMC article.
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM. Welsink-Karssies MM, et al. Mol Genet Metab. 2020 Mar;129(3):171-176. doi: 10.1016/j.ymgme.2020.01.002. Epub 2020 Jan 9. Mol Genet Metab. 2020. PMID: 31954591 Free article.
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Welsink-Karssies MM, Ferdinandusse S, Geurtsen GJ, Hollak CEM, Huidekoper HH, Janssen MCH, Langendonk JG, van der Lee JH, O'Flaherty R, Oostrom KJ, Roosendaal SD, Rubio-Gozalbo ME, Saldova R, Treacy EP, Vaz FM, de Vries MC, Engelen M, Bosch AM. Welsink-Karssies MM, et al. Among authors: langendonk jg. Brain Commun. 2020 Jan 29;2(1):fcaa006. doi: 10.1093/braincomms/fcaa006. eCollection 2020. Brain Commun. 2020. PMID: 32954279 Free PMC article.
103 results