You are here: Home Clinical Services Clinical Pathology Marzia Pasquali, Ph.D.
Document Actions

Marzia Pasquali, Ph.D.

last modified 2013-08-01 09:44 — by u0110722

Professor, Department of Pathology, University of Utah.

Scholarly Emphasis: Clinical laboratory testing for inherited metabolic disorders. Mechanism of formation of collagen cross-link in inherited disorders of collagen metabolism.
Marzia Pasquali, Ph.D.

Contact Info

Email Address: pasquam ~{at}~

Office Phone Number: 801 583-2787 x2853

Supporting Staff:   Kimberley Crist  



  • Medical Director, Biochemical Genetics Laboratory
  • Medical Director, Newborn Screening Laboratory
  • Chair, Children's Health Improvement through Laboratory Diagnosis (CHILDx)

About Marzia Pasquali, Ph.D.

Dr. Pasquali has focused her work on the development and improvement of tests to diagnose and monitor patients with inherited metabolic disorders.  She has also been interested in applying new technologies to detect pre-symptomatically metabolic disorders through newborn screening.  Her  research work has also included the study of disorders of collagen metabolism, focusing on Ehlers-Danlos Syndrome type VI/kyphoscoliotic type.  She is studying an animal model of the disease to understand the mechanism of formation of collagen cross-links in these patients.

Selected Publications

  • Pysher TJ, Bach PR, Geaghan SM, Hamilton MS, Laposata M, Lockitch G, Brugnara C, Coffin M, Pasquali M, Rinaldo P, Roberts WL, Rutledge JC, Ashwood ER, Blaylock RC, Campos JM, Goldsmith B, Jones PM, Lim M, Meikle AW, Perkins SL, Perry DA, Petti CA, Rogers BB, Steele PE, Weiss RL, Woods G. (2006) Teaching Pediatric Laboratory Medicine to Pathology Residents, Arch Path Lab Med 130(7):1031-1038.
  • 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.
  • Anderson J, Carlquist W, Roberts W, Horne B, May H, Schwarz E, Pasquali M, Nielson R, Kushnir M, Rockwood A. (2006) Asymmetric dimethylarginine, cortisol/cortisone ratio, and C-peptide: Markers for diabetes and cardiovascular risk? American Heart Journal 153(1):67-73.
  • Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, Amat di San Filippo C, Pasquali M, Berry SA, Longo N. (2007) Expanded newborn screening identifies maternal primary carnitine deficiency. Molec Genet Metab 90(4):441-5.
  • Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher RC, Enns GM. (2008) Progressive cerebral vascular degeneration with mitochondrial encephalopathy. Am J Med Genet A 146(3):361-7.
  • Longo N, Li SK, Yan G, Kochambilli RP, Papangkorn K, Berglund D, Ghanem A-H, Ashurst CL, Ernst SL, Pasquali M, Higuchi WI. (2007) Noninvasive Measurement of Phenylalanine by Iontophoretic Extraction in Patients with Phenylketonuria. J Inherit Metab Dis 30(6):910-5.
  • Calderon FR, Nelson L, Dobrowolski P, Sinytsina I, Phansalkar A, Longo N, Pasquali M, Mao R. (2007) Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. J. Inherit Metab Dis 30(5):818.
  • Kimonis Ve, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts CGJ. (2008) Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet Part A 146A:745-757.
  • Stevenson DA, Schwarz EL, Viskochil DH, Moyer-Mileur LJ, Murray M, Firth SD, D'Astous JL, Carey JC, Pasquali M. (2008) Evidence of Increased Bone Resorption in neurofibromatosis Type I Using Urinary Pyridinium Crosslink Analysis. Ped Res, in press.
  • Pasquali M (1982) Proprieta' termodinamiche di complessi di aminoacidi con metalli di transizione in soluzione acquosa: determinazioni potenziometriche, calorimetriche e polarografiche. (Thermodynamical properties of complexes of amino acids and metals in aqueous solutions: potentiometric, calorimetric, and polarographic determinations). Thesis for the degree of Doctor in Pharmaceutical Chemistry and Technology, Parma Italy, 1982.
  • Pasquali M. (1983) Precisione ed accuratezza di dati potenziometrici e calorimetrici. (Accuracy and precision of potentiometric and calorimetric data). Thesis for the degree of Doctor in Pharmacy, Parma, Italy, 1982.
  • Braibanti A, Dallavalle F, Mori G, Pasquali M. (1983) Thermodynamics of metal-ligand equi-libria in solution: assessment of models. Part I. Precision of accuracy of potentiometric determinations. Gazzetta Chimica Italiana 113:407-411.
  • Braibanti A. Dallavalle F, Mori G, Pasquali M. (1983) Thermodynamic evaluation of chelate and cooperativity effects. Inorganica Chimica Acta 78: 91-92.
  • Braibanti A, Dallavalle F, Mori G, Pasquali M. (1984) Chelate effect and cooperativity effect in metal-ligand and macromolecule-ligand equilibria. Part I. Chemical potential changes and cooperativity chelation parameters. Inorganica Chimica Acta 91:195-201.
  • Braibanti A, Mori G, Pasquali M, Sansebastiano G. (1985) Metodo volatmmetrico per l'analisi di tracce di biossido di cloro e di clorito Voltammetric method for chlorite and chloride dioxide detection). Notiziario dell'Ecologia III:9-13.
  • Braibanti A, Bruschi C, Fisicaro E, Pasquali M. (1986) Analysis of variance in determinations of equivalence volume and the ionic product of water in potentionetric tirtrations. Talanta 33:471-480.
  • Renneke RF, Pasquali M, Hill CL. (1990) Polyoxometalate systems for the catalytic selective production of nonthermodynamic alkenes from alkanes. Nature of excited-state deactivation processes and control of subsequent thermal processes in polyoxometalate photoredox chemistry. Journal of American Chemical Society 112:6585-6594.
  • All Publications: Click Here

Honors and Awards

  • 2007 - Faculty Recognition Award for Outstanding Work in Developing Expanded Newborn Screening in Utah, ARUP Laboratories.

Professional Education

  • 1983 - Ph.D. Pharmacy, summa cum laude, University of Parma School of Pharmacy, Parma, Italy
  • 1982 - Ph.D. Pharmaceutical Chemistry and Technology, summa cum laude, University of Parma School of Pharmacy, Parma, Italy
  • 1976 - B.A. Maturita' Scientifica; Liceo Scientifico Statale G. Marconi, Parma, Italy.