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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. Among authors: patera ca. 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
The AIMAR recommendations for early diagnosis of chronic obstructive respiratory disease based on the WHO/GARD model*.
Nardini S, Annesi-Maesano I, Del Donno M, Delucchi M, Bettoncelli G, Lamberti V, Patera C, Polverino M, Russo A, Santoriello C, Soverina P. Nardini S, et al. Among authors: patera c. Multidiscip Respir Med. 2014 Sep 3;9(1):46. doi: 10.1186/2049-6958-9-46. eCollection 2014. Multidiscip Respir Med. 2014. PMID: 25473523 Free PMC article. Review.