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115 results

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Page 1
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
Knottnerus SJG, Bleeker JC, Ferdinandusse S, Houtkooper RH, Langeveld M, Nederveen AJ, Strijkers GJ, Visser G, Wanders RJA, Wijburg FA, Boekholdt SM, Bakermans AJ. Knottnerus SJG, et al. Among authors: langeveld m. J Inherit Metab Dis. 2020 Sep;43(5):969-980. doi: 10.1002/jimd.12266. Epub 2020 Jun 5. J Inherit Metab Dis. 2020. PMID: 32463482 Free PMC article.
The role of the clinician in the multi-omics era: are you ready?
van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM. van Karnebeek CDM, et al. Among authors: langeveld m. J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23. J Inherit Metab Dis. 2018. PMID: 29362952 Free PMC article.
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: langeveld m. 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.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G. Bleeker JC, et al. Among authors: langeveld m. J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30761551
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, van Hasselt PM. Haijes HA, et al. Among authors: langeveld m. J Inherit Metab Dis. 2020 May;43(3):424-437. doi: 10.1002/jimd.12193. Epub 2019 Dec 22. J Inherit Metab Dis. 2020. PMID: 31828787 Free PMC article.
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker JC, Visser G, Clarke K, Ferdinandusse S, de Haan FH, Houtkooper RH, IJlst L, Kok IL, Langeveld M, van der Pol WL, de Sain-van der Velden MGM, Sibeijn-Kuiper A, Takken T, Wanders RJA, van Weeghel M, Wijburg FA, van der Woude LH, Wüst RCI, Cox PJ, Jeneson JAL. Bleeker JC, et al. Among authors: langeveld m. J Inherit Metab Dis. 2020 Jul;43(4):787-799. doi: 10.1002/jimd.12217. Epub 2020 Feb 5. J Inherit Metab Dis. 2020. PMID: 31955429 Free PMC article. Clinical Trial.
Developments in the treatment of Fabry disease.
van der Veen SJ, Hollak CEM, van Kuilenburg ABP, Langeveld M. van der Veen SJ, et al. Among authors: langeveld m. J Inherit Metab Dis. 2020 Sep;43(5):908-921. doi: 10.1002/jimd.12228. Epub 2020 Mar 2. J Inherit Metab Dis. 2020. PMID: 32083331 Free PMC article. Review.
Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study.
Körver S, Geurtsen GJ, Hollak CEM, van Schaik IN, Longo MGF, Lima MR, Dijkgraaf MGW, Langeveld M. Körver S, et al. Among authors: langeveld m. J Inherit Metab Dis. 2020 Sep;43(5):1070-1081. doi: 10.1002/jimd.12271. Epub 2020 Jun 25. J Inherit Metab Dis. 2020. PMID: 32510623 Free PMC article.
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer.
Knottnerus SJG, van Harskamp D, Schierbeek H, Bleeker JC, Crefcoeur LL, Ferdinandusse S, van Goudoever JB, Houtkooper RH, IJlst L, Langeveld M, Wanders RJA, Vaz FM, Wijburg FA, Visser G. Knottnerus SJG, et al. Among authors: langeveld m. Clin Nutr. 2021 Mar;40(3):1396-1404. doi: 10.1016/j.clnu.2020.08.032. Epub 2020 Sep 4. Clin Nutr. 2021. PMID: 32948349
115 results