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Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
Oliva C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado M, Ormazabal A, Artuch R. Oliva C, et al. Among authors: bierau j. Clin Chem Lab Med. 2024 Mar 11;62(10):1991-2000. doi: 10.1515/cclm-2023-1291. Print 2024 Sep 25. Clin Chem Lab Med. 2024. PMID: 38456798
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
Sitaram S, Banka HC, Vassallo G, Pavaine J, Fairclough A, Wright R, Fairbanks L, Bierau J, Bowden L, Schwahn B, Horman A, Banka S. Sitaram S, et al. Among authors: bierau j. Am J Med Genet A. 2023 Jan;191(1):234-237. doi: 10.1002/ajmg.a.62999. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271826 Free PMC article.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: bierau j. J Inherit Metab Dis. 2022 Sep;45(5):952-962. doi: 10.1002/jimd.12528. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35722880 Free PMC article.
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Dobritzsch D, Meijer J, Meinsma R, Maurer D, Monavari AA, Gummesson A, Reims A, Cayuela JA, Kuklina N, Benoist JF, Perrin L, Assmann B, Hoffmann GF, Bierau J, Kaindl AM, van Kuilenburg ABP. Dobritzsch D, et al. Among authors: bierau j. Mol Genet Metab. 2022 Jul;136(3):177-185. doi: 10.1016/j.ymgme.2022.01.102. Epub 2022 Feb 1. Mol Genet Metab. 2022. PMID: 35151535 Free article.
88 results