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Diagnosing mucopolysaccharidosis IVA.
Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Wood TC, et al. Among authors: pasquali m. J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1. J Inherit Metab Dis. 2013. PMID: 23371450 Free PMC article.
Anaplerotic therapy in propionic acidemia.
Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, Pasquali M. Longo N, et al. Among authors: pasquali m. Mol Genet Metab. 2017 Sep;122(1-2):51-59. doi: 10.1016/j.ymgme.2017.07.003. Epub 2017 Jul 12. Mol Genet Metab. 2017. PMID: 28712602 Free PMC article. Clinical Trial.
Quantitative analysis of urine acylglycines by ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS): Reference intervals and disease specific patterns in individuals with organic acidemias and fatty acid oxidation disorders.
Hobert JA, De Biase I, Yuzyuk T, Pasquali M. Hobert JA, et al. Among authors: pasquali m. Clin Chim Acta. 2021 Dec;523:285-289. doi: 10.1016/j.cca.2021.10.007. Epub 2021 Oct 8. Clin Chim Acta. 2021. PMID: 34634292
A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine.
Yuzyuk T, Liu A, Thomas A, Wilson JE, De Biase I, Longo N, Pasquali M. Yuzyuk T, et al. Among authors: pasquali m. J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Apr 1;1017-1018:145-152. doi: 10.1016/j.jchromb.2016.02.043. Epub 2016 Mar 3. J Chromatogr B Analyt Technol Biomed Life Sci. 2016. PMID: 26970849
481 results