Marzia Pasquali, PhD

Languages

  • English
  • Italian

Academic Information

  • Departments: Pathology - Professor, Pediatrics - Adjunct Professor
  • Divisions: Clinical Pathology, Pediatric Genetics

Board Certification

  • American Board of Medical Genetics (Clinical Biochemical Genetics)

Academic Office Information

  • 801-583-2787
  • Pathology
    ARUP Laboratories
    SLC, UT 84108

Email: pasquam@aruplab.com

Education History

Type School Degree
Fellowship Emory University
Biochemical Genetics
Fellow
Postdoctoral Fellowship Emory University
Chemistry
Postdoctoral Fellow
Postdoctoral Fellowship Facolta di Farmacia
Postdoctoral Fellow
Doctoral Training University of Parma
Pharmacy
Pharm.D.
Doctoral Training University of Parma
Pharmaceutical Chemistry and Technology
Ph.D.

Global Impact

Education History

Type School Degree Country
Postdoctoral Fellowship Facolta di Farmacia
Postdoctoral Fellow Italy
Doctoral Training University of Parma
Pharmacy
Pharm.D. Italy
Doctoral Training University of Parma
Pharmaceutical Chemistry and Technology
Ph.D. Italy

Selected Publications

Journal Article

  1. Lawrence R, Prill H, Vachali PP, Adintori EG, de Hart G, Wang RY, Burton BK, Pasquali M, Crawford BE (2020). Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA. (Epub ahead of print) Glycobiology.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. De Biase I, Pasquali M, Asamoah A (2018). Unusual Metabolites in a Patient with Isovaleric Acidemia. Clin Chem, 65(4), 595-597.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.