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104 results

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Page 1
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, Wevers RA, van de Warrenburg BPC, Willemsen MAAP, Wolf NI, Vissers LELM, van Karnebeek CDM. Wortmann SB, et al. Among authors: langeveld m. J Inherit Metab Dis. 2022 Jul;45(4):663-681. doi: 10.1002/jimd.12507. Epub 2022 May 22. J Inherit Metab Dis. 2022. PMID: 35506430 Free PMC article. Review.
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
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.
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.
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.
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M. Crefcoeur L, et al. Among authors: langeveld m. J Med Genet. 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. J Med Genet. 2023. PMID: 37487700 Free PMC article.
104 results