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Page 1
The Québec NTBC Study.
Adv Exp Med Biol. 2017;959:187-195. doi: 10.1007/978-3-319-55780-9_17.
Adv Exp Med Biol. 2017.
PMID: 28755196
Review.
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group.
Yang H, et al.
J Med Genet. 2017 Apr;54(4):241-247. doi: 10.1136/jmedgenet-2016-104289. Epub 2016 Nov 22.
J Med Genet. 2017.
PMID: 27876694
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Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.
van Vliet K, Dijkstra AM, Bouva MJ, van der Krogt J, Bijsterveld K, van der Sluijs F, de Sain-van der Velden MG, Koop K, Rossi A, Thomas JA, Patera CA, Kiewiet MBG, Waters PJ, Cyr D; Québec NTBC Study Group; Boelen A, van Spronsen FJ, Heiner-Fokkema MR.
van Vliet K, et al.
J Inherit Metab Dis. 2023 Nov;46(6):1104-1113. doi: 10.1002/jimd.12669. Epub 2023 Aug 10.
J Inherit Metab Dis. 2023.
PMID: 37545091
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Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.
Yang H, Rossignol F, Cyr D, Laframboise R, Wang SP, Soucy JF, Berthier MT, Giguère Y, Waters PJ, Mitchell GA; Québec NTBC Study Group.
Yang H, et al.
Mol Genet Metab Rep. 2017 Dec 27;14:55-58. doi: 10.1016/j.ymgmr.2017.12.002. eCollection 2018 Mar.
Mol Genet Metab Rep. 2017.
PMID: 29326876
Free PMC article.
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