Marzia Pasquali, PhD

1. Orchard PJ, Gupta A, Eisengart JB, Polgreen LE, Pollard LM, Braunlin E, Pasquali M, Lund T (2022). Hematopoietic stem cell transplant for Hurler Syndrome: does using bone marrow or umbilical cord blood make a difference? Blood Adv.
2. Hobert JA, Brose SA, Pasquali M (2022). Quantitation of Butyrylcarnitine, Isobutyrylcarnitine, and Glutarylcarnitine in Urine Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS). Methods Mol Biol, 2546, 83-94.
3. De Biase I, Pasquali M (2022). Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry. Methods Mol Biol, 2546, 509-521.
4. De Biase I, Pasquali M (2023). Correction to: Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry. Methods Mol Biol (2546, pp. C1). United States.
5. Hobert JA, De Biase I, Yuzyuk T, Pasquali M (2021). 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. Clin Chim Acta, 523, 285-289.
6. Jones D, Shao J, Wallis H, Johansen C, Hart K, Pasquali M, Gouripeddi R, Rohrwasser A (2021). Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model. Int J Neonatal Screen, 7(4).
7. Ingoglia F, Chong JL, Pasquali M, Longo N (2021). Creatine metabolism in patients with urea cycle disorders. Mol Genet Metab Rep, 29, 100791.
8. Hart K, Rohrwasser A, Wallis H, Golsan H, Shao J, Anderson T, Wang X, Szabo-Fresnais N, Morrissey M, Kay DM, Wojcik M, Galvin-Parton PA, Longo N, Caggana M, Pasquali M (2021). Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency. Mol Genet Metab, 134(1-2), 60-64.
9. Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N (2020). Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth. Mol Genet Metab, 131(4), 380-389.
10. Lawrence R, Prill H, Vachali PP, Adintori EG, de Hart G, Wang RY, Burton BK, Pasquali M, Crawford BE (2019). Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA. Glycobiology, 30(7), 433-445.
11. Anderson DR, Viau K, Botto LD, Pasquali M, Longo N (2019). Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab, 129(1), 13-19.
12. Eisengart JB, Pierpont EI, Kaizer AM, Rudser KD, King KE, Pasquali M, Polgreen LE, Dickson PI, Le SQ, Miller WP, Tolar J, Orchard PJ, Lund TC (2019). Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes. Genet Med, 21(11), 2552-2560.
13. Lund TC, Miller WP, Liao AY, Tolar J, Shanley R, Pasquali M, Sando N, Bigger BW, Polgreen LE, Orchard PJ (2019). Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes. Sci Rep, 9(1), 14105.
14. Rovelli V, Manzoni F, Viau K, Pasquali M, Longo N (2019). Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab, 127(1), 64-73.
15. De Biase I, Pasquali M, Asamoah A (2018). Unusual Metabolites in a Patient with Isovaleric Acidemia. Clin Chem, 65(4), 595-597.
16. McGlaughon JL, Pasquali M, Wallace K, Ross J, Senol-Cosar O, Shen W, Weaver MA, Feigenbaum A, Lyon E, Enns GM, Mao R, Baudet HG (2019). Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework. Mol Genet Metab, 128(1-2), 122-128.
17. Yuzyuk T, Balakrishnan B, Schwarz EL, De Biase I, Hobert J, Longo N, Mao R, Lai K, Pasquali M (2018). Effect of genotype on galactose-1-phosphate in classic galactosemia patients. Mol Genet Metab, 125(3), 258-265.
18. Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R, ClinGen Inborn Errors of Metabolism Working Group (2018). Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat, 39(11), 1569-1580.
19. Yuzyuk T, Wilson AR, Mao R, Pasquali M (2017). Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples. J Appl Lab Med, 3(2), 222-230.
20. Simcox J, Geoghegan G, Maschek JA, Bensard CL, Pasquali M, Miao R, Lee S, Jiang L, Huck I, Kershaw EE, Donato AJ, Apte U, Longo N, Rutter J, Schreiber R, Zechner R, Cox J, Villanueva CJ (2016). Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis. Cell Metab, 26(3), 509-522.e6.
21. Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M (2011). Disorders of creatine transport and metabolism. Am J Med Genet C Semin Med Genet, 157C(1), 72-8.
22. Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N (2006). Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab, 88(2), 123-30.
23. Amat di San Filippo C, Pasquali M, Longo N (2006). Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum Mutat, 27(6), 513-23.
24. Pasquali M, Monsen G, Richardson L, Alston M, Longo N (2006). Biochemical findings in common inborn errors of metabolism. Am J Med Genet C Semin Med Genet, 142C(2), 64-76.

Education History