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Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ. Abu Bakar N, et al. Among authors: heiner fokkema r. J Inherit Metab Dis. 2022 Jul;45(4):769-781. doi: 10.1002/jimd.12496. Epub 2022 Mar 28. J Inherit Metab Dis. 2022. PMID: 35279850 Free PMC article.
Plasma Lead Concentration and Risk of Late Kidney Allograft Failure: Findings From the TransplantLines Biobank and Cohort Studies.
Sotomayor CG, Giubergia F, Groothof D, Ferreccio C, Nolte IM, Navis GJ, Gomes-Neto AW, Kremer D, Knobbe TJ, Eisenga MF, Rodrigo R, Touw DJ, Bakker SJL; TransplantLines Investigators. Sotomayor CG, et al. Am J Kidney Dis. 2022 Jul;80(1):87-97.e1. doi: 10.1053/j.ajkd.2021.10.009. Epub 2021 Dec 4. Am J Kidney Dis. 2022. PMID: 34871698 Free article.
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
van Spronsen FJ, Himmelreich N, Rüfenacht V, Shen N, Vliet DV, Al-Owain M, Ramzan K, Alkhalifi SM, Lunsing RJ, Heiner-Fokkema RM, Rassi A, Gemperle-Britschgi C, Hoffmann GF, Blau N, Thöny B. van Spronsen FJ, et al. Among authors: heiner fokkema rm. J Med Genet. 2017 Aug 9:jmedgenet-2017-104875. doi: 10.1136/jmedgenet-2017-104875. Online ahead of print. J Med Genet. 2017. PMID: 28794131
Screening for metabolic vitamin B12 deficiency by holotranscobalamin in patients suspected of vitamin B12 deficiency: a multicentre study.
Heil SG, de Jonge R, de Rotte MC, van Wijnen M, Heiner-Fokkema RM, Kobold AC, Pekelharing JM, Adriaansen HJ, Sanders E, Trienekens PH, Rammeloo T, Lindemans J. Heil SG, et al. Among authors: heiner fokkema rm. Ann Clin Biochem. 2012 Mar;49(Pt 2):184-9. doi: 10.1258/acb.2011.011039. Epub 2012 Feb 2. Ann Clin Biochem. 2012. PMID: 22302152