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Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Bierau J, van Hasselt PM, Gissen P, Goyens PJ, McKiernan PJ, Wilcox G, Morris AAM, Jameson EA, Huijbregts SCJ, van Spronsen FJ. van Vliet K, et al. Among authors: bierau j. Orphanet J Rare Dis. 2019 Dec 4;14(1):285. doi: 10.1186/s13023-019-1259-2. Orphanet J Rare Dis. 2019. PMID: 31801588 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.
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI. Haskovic M, et al. Among authors: bierau j. Orphanet J Rare Dis. 2018 Nov 26;13(1):212. doi: 10.1186/s13023-018-0954-8. Orphanet J Rare Dis. 2018. PMID: 30477550 Free PMC article.
Kidney and vascular function in adult patients with hereditary fructose intolerance.
Simons N, Debray FG, Schaper NC, Feskens EJM, Hollak CEM, Bons JAP, Bierau J, Houben AJHM, Schalkwijk CG, Stehouwer CDA, Cassiman D, Brouwers MCGJ. Simons N, et al. Among authors: bierau j. Mol Genet Metab Rep. 2020 May 11;23:100600. doi: 10.1016/j.ymgmr.2020.100600. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32426234 Free PMC article.
86 results