Marzia Pasquali

Marzia Pasquali, PhD

Languages spoken: Italian, English

Academic Information

Departments Adjunct - Pediatrics , Primary - Pathology

Divisions: Medical Genetics

Board Certification

  • American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics)

Education History

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

Selected Publications

Journal Article

  1. Lawrence R, Prill H, Vachali PP, Adintori EG, de Hart G, Wang RY, Burton BK, Pasquali M, Crawford B (2020). Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA. Glycobiology, 30(7), 433-445.
  2. 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. Human mutation, 39(11), 1569-1580.
  3. Amat di San Filippo C, Pasquali M, Longo (2006). Pharmacological rescue of carnitine transport in primary carnitine deficiency. Human mutation, 27(6), 513-23.
  4. De Biase I, Pasquali M, Asamoah (2019). Unusual Metabolites in a Patient with Isovaleric Acidemia. Clinical chemistry, 65(4), 595-597.
  5. Rovelli V, Manzoni F, Viau K, Pasquali M, Longo (2019). Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency. Molecular genetics and metabolism, 127(1), 64-73.
  6. Yuzyuk T, Balakrishnan B, Schwarz EL, De Biase I, Hobert J, Longo N, Mao R, Lai K, Pasquali (2018). Effect of genotype on galactose-1-phosphate in classic galactosemia patients. Molecular genetics and metabolism, 125(3), 258-265.
  7. Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo (2006). Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Molecular genetics and metabolism, 88(2), 123-30.
  8. McGlaughon JL, Pasquali M, Wallace K, Ross J, Senol-Cosar O, Shen W, Weaver MA, Feigenbaum A, Lyon E, Enns GM, Mao R, Baudet H (2019). Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework. Molecular genetics and metabolism, 128(1-2), 122-128.
  9. Anderson DR, Viau K, Botto LD, Pasquali M, Longo (2020). Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. Molecular genetics and metabolism, 129(1), 13-19.
  10. Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo (2020). Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth. Molecular genetics and metabolism, 131(4), 380-389.
  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 (2021). Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency. Molecular genetics and metabolism, 134(1-2), 60-64.
  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 T (2019). Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes. Genetics in medicine, 21(11), 2552-2560.
  13. Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali (2011). Disorders of creatine transport and metabolism. American journal of medical genetics. Part C, Seminars in medical genetics, 157C(1), 72-8.
  14. Pasquali M, Monsen G, Richardson L, Alston M, Longo (2006). Biochemical findings in common inborn errors of metabolism. American journal of medical genetics. Part C, Seminars in medical genetics, 142C(2), 64-76.
  15. 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 C (2017). Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis. Cell metabolism, 26(3), 509-522.e6.
  16. Lund TC, Miller WP, Liao AY, Tolar J, Shanley R, Pasquali M, Sando N, Bigger BW, Polgreen LE, Orchard P (2019). Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes. Scientific reports, 9(1), 14105.
  17. Yuzyuk T, Wilson AR, Mao R, Pasquali (2018). Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples. The journal of applied laboratory medicine, 3(2), 222-230.
  18. Hobert JA, De Biase I, Yuzyuk T, Pasquali (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. Clinica chimica acta; international journal of clinical chemistry, 523, 285-289.
  19. Jones D, Shao J, Wallis H, Johansen C, Hart K, Pasquali M, Gouripeddi R, Rohrwasser (2021). Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model. International journal of neonatal screening, 7(4),
  20. Ingoglia F, Chong JL, Pasquali M, Longo (2021). Creatine metabolism in patients with urea cycle disorders. Molecular genetics and metabolism reports, 29, 100791.
  21. Orchard PJ, Gupta A, Eisengart JB, Polgreen LE, Pollard LM, Braunlin E, Pasquali M, Lund (2022). Hematopoietic stem cell transplant for Hurler Syndrome: does using bone marrow or umbilical cord blood make a difference?. Blood advances,
  22. De Biase I, Pasquali (2022). Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry. Methods in molecular biology (Clifton, N.J.), 2546, 509-521.
  23. Hobert JA, Brose SA, Pasquali (2022). Quantitation of Butyrylcarnitine, Isobutyrylcarnitine, and Glutarylcarnitine in Urine Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS). Methods in molecular biology (Clifton, N.J.), 2546, 83-94.
  24. Hobert JA, Guymon R, Yuzyuk T, Pasquali (2023). Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS). Current protocols, 3(4), e758.
  25. Schwarz EL, Roberts WL, Pasquali (2005). Analysis of plasma amino acids by HPLC with photodiode array and fluorescence detection. Clinica chimica acta; international journal of clinical chemistry, 354(1-2), 83-90.
  26. Prinzi J, Pasquali M, Hobert JA, Palmquist R, Wong KN, Francis S, De Biase (2023). Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective. International journal of neonatal screening, 9(4),
  27. 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 (2023). Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation. Molecular genetics and metabolism, 140(3), 107668.
  28. 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 R (2023). Biochemical signatures of disease severity in multiple sulfatase deficiency. Journal of inherited metabolic disease,
  29. Ingoglia F, Tanfous M, Ellezam B, Anderson KJ, Pasquali M, Botto L (2024). MADD-like pattern of acylcarnitines associated with sertraline use. Molecular genetics and metabolism reports, 41, 101142.
  30. Longo N, Voss LA, Frigeni M, Balakrishnan B, Pasquali (2024). Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8. Molecular genetics and metabolism, 143(3), 108595.
  31. Nasseri Moghaddam Z, Reinhardt EK, Thurm A, Potter BK, Smith M, Graham C, Tiller BH, Baker SA, Bilder DA, Bogar R, Britz J, Cafferty R, Coller DP, DeGrauw TJ, Hall V, Lipshutz GS, Longo N, Mercimek-Andrews S, Miller JS, Pasquali M, Salomons GS, Schulze A, Wheaton CP, Williams KF, Young SP, Li J, Balog S, Selucky T, Stockler-Ipsiroglu S, Wallis (2024). Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency.
  32. Kish-Trier E, Schwarz EL, Pasquali M, Yuzyuk (2016). Quantitation of total fatty acids in plasma and serum by GC-NCI-MS. Clinical mass spectrometry (Del Mar, Calif.), 2, 11-17.
  33. Duque Lasio ML, Zaitsev M, Hobert JA, De Biase I, Pasquali M, Yuzyuk (2025). C4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolism. Molecular genetics and metabolism, 145(4), 109160.
  34. Nasseri Moghaddam Z, Reinhardt EK, Thurm A, Potter BK, Smith M, Graham C, Tiller BH, Baker SA, Bilder DA, Bogar R, Britz J, Cafferty R, Coller DP, DeGrauw TJ, Hall V, Lipshutz GS, Longo N, Mercimek-Andrews S, Miller JS, Pasquali M, Salomons GS, Schulze A, Wheaton CP, Williams KF, Young SP, Li J, Balog S, Selucky T, Stöckler-Ipsiroglu S, Wallis (2025). Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency. Orphanet journal of rare diseases, 20(1), 408.
  35. Coody TK, De Biase I, Porter JM, Pasquali M, Shayota B (2025). Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism. Molecular genetics and metabolism reports, 45, 101258.

Review

  1. Cao J, Pasquali M, Jones P (2024). Newborn Screening: Current Practice and Our Journey over the Last 60 Years. The journal of applied laboratory medicine, 9(4), 820-832.

Other

  1. De Biase I, Pasquali (2022). Correction to: Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry. Methods in molecular biology (Clifton, N.J.), 2546, C1.