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Marzia Pasquali

Marzia Pasquali, PhD

Languages spoken: English, Italian

Academic Information

Departments Primary - Pathology , Adjunct - Pediatrics

Divisions: Genetics

Academic Office Information

Board Certification

  • American Board of Medical Genetics (Clinical Biochemical Genetics)

Education History

Fellowship Emory University
Emory University
Postdoctoral Fellow
Doctoral Training University of Parma
Facolta di Farmacia
Postdoctoral Fellow
Doctoral Training University of Parma

Selected Publications

Journal Article

  1. Prinzi J, Pasquali M, Hobert JA, Palmquist R, Wong KN, Francis S, De Biase I (2023). Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective. Int J Neonatal Screen, 9(4). (Read full article)
  2. Flowers M, Dickson A, Miller MJ, Spector E, Enns GM, Baudet H, Pasquali M, Racacho L, Sadre-Bazzaz K, Wen T, Fogarty M, Fernandez R, Weaver MA, Feigenbaum A, Graham BH, Mao R (2023). Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation. Mol Genet Metab, 140(3), 107668. (Read full article)
  3. Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC (2023). Biochemical signatures of disease severity in multiple sulfatase deficiency. J Inherit Metab Dis. (Read full article)
  4. Hobert JA, Guymon R, Yuzyuk T, Pasquali M (2023). Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS). Curr Protoc, 3(4), e758. (Read full article)
  5. 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. (Read full article)
  6. 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. (Read full article)
  7. 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. (Read full article)
  8. 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. (Read full article)
  9. 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). (Read full article)
  10. Ingoglia F, Chong JL, Pasquali M, Longo N (2021). Creatine metabolism in patients with urea cycle disorders. Mol Genet Metab Rep, 29, 100791. (Read full article)
  11. 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. (Read full article)
  12. 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. (Read full article)
  13. 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. (Read full article)
  14. 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. (Read full article)
  15. 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. (Read full article)
  16. 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. (Read full article)
  17. 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. (Read full article)
  18. De Biase I, Pasquali M, Asamoah A (2018). Unusual Metabolites in a Patient with Isovaleric Acidemia. Clin Chem, 65(4), 595-597. (Read full article)
  19. 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. (Read full article)
  20. 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. (Read full article)
  21. 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. (Read full article)
  22. 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. (Read full article)
  23. 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. (Read full article)
  24. 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. (Read full article)
  25. 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. (Read full article)
  26. 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. (Read full article)
  27. 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. (Read full article)
  28. Schwarz EL, Roberts WL, Pasquali M (2004). Analysis of plasma amino acids by HPLC with photodiode array and fluorescence detection. Clin Chim Acta, 354(1-2), 83-90. (Read full article)


  1. 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. (Read full article)