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104 results

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Page 1
Neonatal carnitine concentrations in relation to gestational age and weight.
Crefcoeur LL, de Sain-van der Velden MGM, Ferdinandusse S, Langeveld M, Maase R, Vaz FM, Visser G, Wanders RJA, Wijburg FA, Verschoof-Puite RK, Schielen PCJI. Crefcoeur LL, et al. Among authors: langeveld m. JIMD Rep. 2020 Sep 8;56(1):95-104. doi: 10.1002/jmd2.12162. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204600 Free PMC article.
Phenylketonuria in adults: what do we know?
Lachmann R, Langeveld M. Lachmann R, et al. Among authors: langeveld m. Am J Clin Nutr. 2024 Apr;119(4):870-871. doi: 10.1016/j.ajcnut.2024.01.023. Epub 2024 Feb 1. Am J Clin Nutr. 2024. PMID: 38296030 No abstract available.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. Wallace EL, et al. Among authors: langeveld m. J Med Genet. 2023 Nov 8:jmg-2023-109445. doi: 10.1136/jmg-2023-109445. Online ahead of print. J Med Genet. 2023. PMID: 37940383 Free 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.
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
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.
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.
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
104 results