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3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Haidar R, Ołtarzewski M, Jabłońska E, Muthukumarasamy P, Sthaneswar P, Gan CS, Krajewska-Walasek M, Carrozzo R, Verrigni D, Semeraro M, Rizzo C, Taurisano R, Alhaddad B, Kovacs-Nagy R, Haack TB, Dionisi-Vici C, Pronicka E, Wortmann SB. Rokicki D, et al. Among authors: taurisano r. Clin Chim Acta. 2017 Aug;471:95-100. doi: 10.1016/j.cca.2017.05.023. Epub 2017 May 17. Clin Chim Acta. 2017. PMID: 28526534
A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.
Boenzi S, Deodato F, Taurisano R, Martinelli D, Verrigni D, Carrozzo R, Bertini E, Pastore A, Dionisi-Vici C, Johnson DW. Boenzi S, et al. Among authors: taurisano r. Clin Chim Acta. 2014 Nov 1;437:93-100. doi: 10.1016/j.cca.2014.07.010. Epub 2014 Jul 16. Clin Chim Acta. 2014. PMID: 25038260
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Baban A, Adorisio R, Corica B, Rizzo C, Calì F, Semeraro M, Taurisano R, Magliozzi M, Carrozzo R, Parisi F, Dallapiccola B, Vaz FM, Drago F, Dionisi-Vici C. Baban A, et al. Among authors: taurisano r. Am J Med Genet A. 2020 Jan;182(1):64-70. doi: 10.1002/ajmg.a.61383. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729175
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Maines E, Catesini G, Boenzi S, Mosca A, Candusso M, Dello Strologo L, Martinelli D, Maiorana A, Liguori A, Olivieri G, Taurisano R, Piemonte F, Rizzo C, Spada M, Dionisi-Vici C. Maines E, et al. Among authors: taurisano r. J Inherit Metab Dis. 2020 Nov;43(6):1173-1185. doi: 10.1002/jimd.12287. Epub 2020 Aug 23. J Inherit Metab Dis. 2020. PMID: 32681732
26 results