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. 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.
  2. 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. (Epub ahead of print) Genet Med.
  3. De Biase I, Pasquali M, Asamoah A (2018). Unusual Metabolites in a Patient with Isovaleric Acidemia. Clin Chem, 65(4), 595-597.
  4. 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.
  5. 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.
  6. 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 (). Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis. Cell Metab, 26(3), 509-522.
  7. Yuzyuk T, Viau K, Andrews A, Pasquali M, Longo N (2018 Jan 19). Biochemical changes and clinical outcomes in 34 patients with classic galactosemia. J Inherit Metab Dis, 41(2), 197-208.
  8. Oglesbee D, Cowan TM, Pasquali M, Wood TC, Weck KE, Long T, Palomaki GE (2018 Jan). CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance. Genet Med, 20(1), 83-90.
  9. Pasquali M, Yu C, Coffee B (2018 Jan). Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med, 20(1), 3-11.
  10. Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N (2017 Dec). Functional and molecular studies in primary carnitine deficiency. Hum Mutat, 38(12), 1684-1699.
  11. 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.
  12. Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, Pasquali M (2017 Sep). Anaplerotic therapy in propionic acidemia. Mol Genet Metab, 122(1-2), 51-59.
  13. De Biase I, Viau KS, Liu A, Yuzyuk T, Botto LD, Pasquali M, Longo N (2017). Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency. JIMD Rep, 31, 63-71.
  14. Raymond GV, Pasquali M, Polgreen LE, Dickson PI, Miller WP, Orchard PJ, Lund TC (). Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. Sci Rep, 6, 38305.
  15. Raymond GV, Pasquali M, Polgreen LE, Dickson PI, Miller WP, Orchard PJ, Lund TC (2016 Dec 2). Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. Sci Rep, 6, 38305.
  16. Hobert JA, Liu A, Pasquali M (2016 Oct 11). Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS). Curr Protoc Hum Genet, 91, 17.25.1-17.25.12.
  17. Longo N, Frigeni M, Pasquali M (2016 Jan 29). Carnitine transport and fatty acid oxidation. Biochim Biophys Acta, 1863(10), 2422-35.
  18. Yuzyuk T, Thomas A, Viau K, Liu A, De Biase I, Botto LD, Pasquali M, Longo N (2016 Jul). Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy. Mol Genet Metab, 118(3), 167-72.
  19. Thurm A, Himelstein D, DSouza P, Rennert O, Jiang S, Olatunji D, Longo N, Pasquali M, Swedo S, Salomons GS, Carrillo N (2016 May). Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. J Dev Behav Pediatr, 37(4), 322-6.
  20. Yuzyuk T, Liu A, Thomas A, Wilson JE, De Biase I, Longo N, Pasquali M (2016 Apr 1). A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine. J Chromatogr B Analyt Technol Biomed Life Sci, 1017-1018, 145-152.
  21. Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N (2015 Mar). Biochemical abnormalities in Pearson syndrome. Am J Med Genet A, 167A(3), 621-8.
  22. Pasquali M, Schwarz E, Jensen M, Yuzyuk T, DeBiase I, Randall H, Longo N (2014 Mar). Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. J Inherit Metab Dis, 37(2), 231-6.
  23. Bowser JE, Elder SH, Pasquali M, Grady JG, Rashmir-Raven AM, Wills R, Swiderski CE (2014 Mar). Tensile properties in collagen-rich tissues of Quarter Horses with hereditary equine regional dermal asthenia (HERDA). Equine Vet J, 46(2), 216-22.
  24. Viau KS, Ernst SL, Pasquali M, Botto LD, Hedlund G, Longo N (2013 Nov). Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metab, 110(3), 255-62.
  25. Ndukwe Erlingsson UC, Iacobazzi F, Liu A, Ardon O, Pasquali M, Longo N (2013 Aug 9). The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders. Biochem Biophys Res Commun, 437(4), 637-41.
  26. Mehta SG, Khare M, Ramani R, Watts GD, Simon M, Osann KE, Donkervoort S, Dec E, Nalbandian A, Platt J, Pasquali M, Wang A, Mozaffar T, Smith CD, Kimonis VE (2013 May). Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin Genet, 83(5), 422-31.
  27. Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, DAlmeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ (2013 Mar). Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis, 36(2), 293-307.
  28. Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR (2012 Oct). Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet, 44(10), 1152-5.
  29. Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N (2012 Aug). Glutaric acidemia type 1: outcomes before and after expanded newborn screening. Mol Genet Metab, 106(4), 430-8.
  30. Wood T, Bodamer OA, Burin MG, DAlmeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P (2012 May). Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab, 106(1), 73-82.
  31. Rose EC, di San Filippo CA, Ndukwe Erlingsson UC, Ardon O, Pasquali M, Longo N (2012 Jan). Genotype-phenotype correlation in primary carnitine deficiency. Hum Mutat, 33(1), 118-23.
  32. Stevenson DA, Schwarz EL, Carey JC, Viskochil DH, Hanson H, Bauer S, Weng HY, Greene T, Reinker K, Swensen J, Chan RJ, Yang FC, Senbanjo L, Yang Z, Mao R, Pasquali M (2011 Dec). Bone resorption in syndromes of the Ras/MAPK pathway. Clin Genet, 80(6), 566-73.
  33. Held PK, White L, Pasquali M (2011 Sep 15). Quantitative urine amino acid analysis using liquid chromatography tandem mass spectrometry and aTRAQ reagents. J Chromatogr B Analyt Technol Biomed Life Sci, 879(26), 2695-703.
  34. Stevenson DA, Yan J, He Y, Li H, Liu Y, Zhang Q, Jing Y, Guo Z, Zhang W, Yang D, Wu X, Hanson H, Li X, Staser K, Viskochil DH, Carey JC, Chen S, Miller L, Roberson K, Moyer-Mileur L, Yu M, Schwarz EL, Pasquali M, Yang FC (2011 May). Multiple increased osteoclast functions in individuals with neurofibromatosis type 1. Am J Med Genet A, 155A(5), 1050-9.
  35. McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Ahlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, DApolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-Gonzalez I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jonsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, Garcia-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Dobeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM (2011 Mar). Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med, 13(3), 230-54.
  36. 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.
  37. Kronn D, Mofidi S, Braverman N, Harris K, Diagnostics Work Group Adams D, Arnold G, Berry S, Desposito F, Diaz G, Ficiogliu C, Gallagher R, Galvin-Parton P, Garganta C, Gartzke M, Greene C, Levy P, Levy-Fisch J, Lichter-Konecki U, Lim-Helia E, Longo N, Martin M, Matern D, McCurdy K, Pasquali M, Pass K, Rapaport R, Singh R, Speiser P, Stein V, Suchy S and Wilson W (). Diagnostic guidelines for newborns who screen positive in newborn screening. Genet Med, 12(12 Supp), S251-5.
  38. Wright EL, Van Hove JL, Thomas J, Mountain States Metabolic Consortium Aleck K, Bernstein L, Ernst S, Freedenberg D, Freehauf C, Gallagher R, Gibson J, Heidenreich R, Kaye C, Leonard C, Longo N, Pasquali M, Root S (). Mountain states genetics regional collaborative center's metabolic newborn screening long-term follow-up study: a collaborative multi-site approach to newborn screening outcomes research. Genet Med, 12(12 Suppl), S228-41.
  39. Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M, Longo N, Pasquali M (2009 Aug). Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. Pediatr Res, 66(2), 230-5.
  40. Liu A, Johnson DW, Pasquali M (2009 Jun 27). Addition of formic acid improves acetonitrile extraction of dicarboxylic acylcarnitines. Clin Chim Acta, 404(2), 169-70.
  41. Sidell N, Hao L, Pasquali M, McDonald JD (2009). Carcinogenic effects in a phenylketonuria mouse model. PLoS ONE, 4(1), e4292.
  42. Stevenson DA, Schwarz EL, Viskochil DH, Moyer-Mileur LJ, Murray M, Firth SD, DAstous JL, Carey JC, Pasquali M (2008 Jun). Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis. Pediatr Res, 63(6), 697-701.
  43. 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, Watta GDJ (06/01/2008). Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A, 146, 745-757.
  44. Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher RC, Enns GM (2008 Feb 1). Progressive cerebral vascular degeneration with mitochondrial encephalopathy. Am J Med Genet A, 146A(3), 361-7.
  45. Longo N, Li SK, Yan G, Kochambilli RP, Papangkorn K, Berglund D, Ghanem AH, Ashurst CL, Ernst SL, Pasquali M, Higuchi WI (2007 Nov). Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria. J Inherit Metab Dis, 30(6), 910-5.
  46. Calderon FR, Nelson L, Dobrowolski P, Sinitsyna I, Phansalkar A, Longo N, Pasquali M, Mao R (2007 Oct). Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. J Inherit Metab Dis, 30(5), 818.
  47. Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N (2007 Apr). Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab, 90(4), 441-5.
  48. Anderson JL, Carlquist JF, Roberts WL, Horne BD, May HT, Schwarz EL, Pasquali M, Nielson R, Kushnir MM, Rockwood AL, Bair TL, Muhlestein JB (2007 Jan). Asymmetric dimethylarginine, cortisol/cortisone ratio, and C-peptide: markers for diabetes and cardiovascular risk? Am Heart J, 153(1), 67-73.
  49. Pysher TJ, Bach PR, Geaghan SM, Hamilton MS, Laposata M, Lockitch G, Brugnara C, Coffin CM, 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 Jul). Teaching pediatric laboratory medicine to pathology residents. Arch Pathol Lab Med, 130(7), 1031-8.
  50. 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.
  51. 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.
  52. Longo N, Amat di San Filippo C, Pasquali M (2006 May 15). Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet, 142C(2), 77-85.
  53. 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.
  54. Hedlund GL, Longo N, Pasquali M (2006 May 15). Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet, 142C(2), 86-94.
  55. Filipowicz HR, Sharon L 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.
  56. Amat di San Filippo C, Pasquali M, Longo N (2006). Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum Genet, 27(6), 513-23.
  57. Liu A, Pasquali M (2005 Dec 5). Acidified acetonitrile and methanol extractions for quantitative analysis of acylcarnitines in plasma by stable isotope dilution tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci, 827(2), 193-8.
  58. Thierry-Palmer M, Cephas S, Pasquali M, Schwarz E, Sayavongsa P, Umeakunna K, Lapu-Bula R (2005). The Vitamin D Endocrine System of African-American Men During Head-Down Tilt Bed Rest. J Gravit Physiol, 12(2), 1-9.
  59. Liu A, Monsen G, Harding J, Richardson L, Pasquali M (2005). Diagnostic value of urine acylcarnitine profile in organic acidemias. Clin Chem, 51, (S6): A39 (A124).
  60. Dai T, Abou-Rjaily GA, Al-Share QY, Yang Y, Fernstrom MA, Deangelis AM, Lee AD, Sweetman L, Amato A, Pasquali M, Lopaschuk GD, Erickson SK, Najjar SM (2004 Oct 22). Interaction between altered insulin and lipid metabolism in CEACAM1-inactive transgenic mice. J Biol Chem, 279(43), 45155-61.
  61. Liu A, Kushnir MM, Roberts WL, Pasquali M (2004 Jul 5). Solid phase extraction procedure for urinary organic acid analysis by gas chromatography mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci, 806(2), 283-7.
  62. Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N (2004 Apr 15). Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet A, 126(2), 150-5.
  63. Singh RH, Kruger WD, Wang L, Pasquali M, Elsas LJ 2nd (2004 Mar-Apr). Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria. Genet Med, 6(2), 90-5.
  64. Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N (2004). Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. J Inherit Metab Dis, 27(6), 778-80.
  65. Longo N, Fukao T, Singh R, Pasquali M, Barrios RG, Kondo N, Gibson KM (2004). Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. J Inherit Metab Dis, 27(5), 691-2.
  66. Schwarz EL, Roberts WL, Pasquali M (2004). Analysis of plasma amino acids by HPLC with photodiode array and fluorescence detection. Clin Chim Acta, 354, 83-90.
  67. Sidell N, Pasquali M, Malkapuram S, Barua AB, Wanichkul T, Wada RK (2003 Jul 21). In vitro and in vivo effects of easily administered, low-toxic retinoid and phenylacetate compounds on human neuroblastoma cells. Br J Cancer, 89(2), 412-9.
  68. Kushnir MM, Shushan B, Roberts WL, Pasquali M (2002 Jul). Serum acylcarnitines and vitamin B12 deficiency. Clin Chem, 48(7), 1126-8.
  69. Faqi AS, Sherman DD, Wang M, Pasquali M, Bayorh MA, Thierry-Palmer M (2001 Dec). The calciuric response to dietary salt of Dahl salt-sensitive and salt-resistant female rats. Am J Med Sci, 322(6), 333-8.
  70. Stevenson DA, Yan J, He Y, Li H, Liu Y, Zhang Q, Jing Y, Guo Z, Zhang W, Yang D, Wux X, hanson H, Li X, Staser K, Viskochil DH, Carey JC, Chen S, Miller L, Roberson K, Moyer-Mileur L, Yum M, Schwarz EL, Pasquali M, Yang FC (). Multiple increased osteoclast functions in individuals with neurofibromatosis type I. Am J Med Genet A, 155(A), 1050-9.
  71. Longo N, Wang Y, Pasquali M (1999 Aug). Progressive decline in insulin levels in Rabson-Mendenhall syndrome. J Clin Endocrinol Metab, 84(8), 2623-9.
  72. Scaglia F, Wang Y, Singh RH, Dembure PP, Pasquali M, Fernhoff PM, Longo N (1998 Nov-Dec). Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency. Genet Med, 1(1), 34-9.
  73. Boddie AM, Steen MT, Sullivan KM, Pasquali M, Dembure PP, Coates RJ, Elsas LJ 2nd (1998 Feb). Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate. Metabolism, 47(2), 207-11.
  74. Pasquali M, Still MJ, Vales T, Rosen RI, Evinger JD, Dembure PP, Longo N, Elsas LJ (1997 Jan). Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI. Proc Assoc Am Physicians, 109(1), 33-41.
  75. Pasquali M, Still MJ, Dembure PP, Elsas LJ (1995). Pyridinium cross-links in heritable disorders of collagen. Am J Hum Genet, 57, 1508-1510.
  76. Pasquali M, Dembure PP, Still MJ, Elsas LJ (1994 Jul 14). Urinary pyridinium cross-links: a noninvasive diagnostic test for Ehlers-Danlos syndrome type VI. N Engl J Med, 331(2), 132-3.
  77. Renneke RF, Kadkhodayan M, Pasquali M, Hill CL (1991). Roles of surface protonation on the photodynamic, catalytic, and other properties of polyoxometalate probed by the photochemical functionalization of alkanes. Implications for irradiated semiconductor metal oxides. J Am Chem Soc, 113, 8357-8367.
  78. 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. J Am Chem Soc, 112, 6585-6594.
  79. 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.
  80. 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. Inorg Chim Acta, 91, 195-201.
  81. Braibanti A, Dallavalle F, Mori G, Pasquali M (1983). Thermodynamic evaluation of chelate and cooperativity effects. Inorg Chim Acta, 79, 91-92.
  82. Braibanti A, Dallavalle F, Mori G, Pasquali M (1983). Thermodynamics of metal ligand equi libria in solution: assessment of models. Part I. Precision and accuracy of potentiometric determinations. Gazz Chim Ital, 113, 407-411.

Review

  1. Pasquali M, Longo N (). Newborn Screening and Inborn Errors of Metabolism. [Review]. Am J Med Genet C Semin Med Genet, 157(1), 1-2.
  2. Longo N, Ardon O, Vanzo R, Schwarz E, Pasquali M (). Disorders of creatine transport and metabolism. [Review]. Am J Med Genet C Semin Med Genet, 57(1), 72-8.
  3. Pasquali M, Monsen G, Richardson L, Alston M, Longo N (04/06/2006). Biochemical findings in common inborn errors of metabolism. [Review]. Am J Med Genet C Semin Med Genet, 142C(2), 64-76.
  4. Gay BB Jr, Elsas LJ, Wyly JB, Pasquali M (1994). Osteopathia striata with cranial sclerosis. [Review]. Pediatr Radiol, 24(1), 56-60.

Book Chapter

  1. Pasquali M, De Biase I (). Newborn Screening. In Jones, Dietzen, Haymond, Bennett (Eds.), Pediatric Laboratory Medicine (pp. 95-134). McGraw-Hill.
  2. Cowan T, Pasquali M (). Laboratory Investigations of Inborn Errors of Metabolism. In Sarafoglou, Hoffman, Roth (Eds.), Pediatric Endocrinology and Inborn Errors of Metabolism (2nd, pp. 1139-58). McGraw-Hill.
  3. Hobert, JA, Liu A, Pasquali, M (). Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS). In Current Protocols in Human Genetics (Supp. 91 Unit 17.25, pp. 1-12). Hoboken, New Jersey: John Wiley & Sons.
  4. Pasquali M, Longo N (). Newborn Screening and Inborn Errors of Metabolism. In Burtis CA, Bruns DE, Eds (Eds.), Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics (7th edition). Elsevier/Saunders.
  5. Pasquali M, Longo N (). Amino acids analysis. In Blau, Duran, Blaskovics, Gibson Eds. (Eds.), Physicians Guide To The Laboratory Diagnosis of Metabolic DIsorders. Springer.
  6. Longo N, Pasquali M (). Primary Carnitine Deficiency. In Murray, Babyatsky, Giovanni (Eds.), Clinical Genomics: Practical Applications in Adult Patient Care (First). McGraw-Hill Education.
  7. Pasquali M, Longo N (). Newborn screening for metablic disorders. In Best DH, Swensen JJ, Eds. (Eds.), Molecular Genetics and Personalized Medicine. Sjpringer, LLC.
  8. Pasquali M, Longo N (). Newborn Screening and Inborn Errors of Metabolism. In Burtis CA, Ashwood ER, Bruns DE, eds. (Eds.), Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 5th ed (5th Edition). St. Louis: Saunders.
  9. Longo N, Amat di San Filippo C, Schwarz EL, Pasquali M (). Primary Carnitine Deficiency. In Encyclopedia of Molecular Mechanisms of Disease. Heidelberg, Germany: Springer.
  10. Pasquali M, Sawyer BG (IN PRESS 2008). Newborn Screening. In Saunders (Ed.), Tietz Fundamentals of Clinical Chemistry (6th). St. Louis: Saunders.
  11. Longo N, Amat di San Filippo C, Pasquali M (2003). The OCTN2 carnitine transporter and fatty acid oxidation. In Broer S, Wagner CA (Eds.), Membrane Transport Diseases: The Molecular Basis of Inherited Transport Defects (pp. 161-173). Kluwer Academic/Plenum Publishers.

Letter

  1. De Biase I, Liu A, Yuzyuk T, Longo N, Pasquali M (2015 Mar 10). Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria [Letter to the editor]. Clin Chim Acta, 442, 73-4.
  2. Pasquali M, Longo N (2013 Apr). Response to chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation [Letter to the editor]. Hum Mutat, 34(4), 656.

Abstract

  1. Ingoglia F, Chong JL, Pasquali M, Longo N ().

    Creatine Metabolism in Urea Cycle Disorders

    [Abstract]. 126(3), 307.
  2. De Biase I, Viau KS, Liu A, Yuzyuk T, Botto LD, Pasquali M, Longo N ().

    DIAGNOSIS, TREATMENT AND CLINICAL OUTCOME OF PATIENTS WITH LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE (LCHAD) DEFICIENCY

    [Abstract]. 117(3), 253 (Abs36).
  3. Yuzyuk T, Liu A, Thomas A, Wilson JE, De Biase I, Longo N, Pasquali M ().

    SIMULTANEOUS QUANTIFICATION OF ALPHA-AMINOADIPIC SEMIALDEHYDE/PIPERIDEINE-6-CARBOXYLATE AND PIPECOLIC ACID IN PLASMA AND URINE

    [Abstract]. 117(3), 296 (Abs 129).
  4. Frigeni M, Yin X, Balakrishnan B, Pasquali M, Longo N ().

    FUNCTIONAL STUDIES REMAIN THE BEST STRATEGY TO CONFIRM THE DIAGNOSIS OF PRIMARY CARNITINE DEFICIENCY

    [Abstract]. 117(3), 257 (Abs 44).
  5. Reis CF, Warnock A, Pasquali M, Longo N (). Identification of citrin deficiency by newborn screening [Abstract]. Mol Genet Metab, 114(3), 338.
  6. Ballarini E, Underhill HR, Botto L, Pasquali M, Longo N (). Multiple Acyl-CoA Dehydrogenase deficiency: diagnosis and outcome after expanded newborn screening [Abstract]. Mol Genet Metab, 114(3), 351-52.
  7. Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, Pasquali M ().

    . Anaplerotic therapy in propionic acidemia.

    [Abstract]. 38(Suppl 1), S168, Abstract P-274.
  8. Frigeni M, Yin X, Pasquali M, Longo N ().

    Functional and molecular evaluation of patients with primary carnitine deficiency

    [Abstract]. 38(Suppl 1), S199, Abstract P-356.
  9. Pasquali M, Auray-Blais C, Ellsworth K, Fietz M, Giugliani R, Harmatz P, Izzo E, la Marca G, Lavoie P, Millington D, Trinh M-U, van Vlies N, Wijburg F, Wood T, Zhang H, Miller N (). Urine keratan sulfate (uKS) in Morquio syndrome type A patients measured via LC-MS/MS method: Improved KS detection as compared to dye-based methods and report of age-specific uKS reference ranges [Abstract]. Mol Genet Metab, 114, S91.
  10. Longo N, Amat di San Filippo C, Yin X, Frigeni M, Mao R, Pasquali M (). Multiple mutations in the SLC22A5 gene in patients with OCTN2 carnitine transporter deficiency identified by newborn screening [Abstract]. J Inherit Metab Dis, 37(Suppl 1), S55.
  11. Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, Pasquali M (). Anaplerotic Therapy In Propionic Acidemia [Abstract]. Mol Genet Metab, 111(3), 269.
  12. Naleway JJ, Harlan FK, Longo N, Pasquali M, Batchelor RH, Luska JS (). High-content screening using metabolic lysosomal enzyme probes [Abstract]. Mol Genet Metab, 111(2), S80.
  13. Pasquali M, Yuzyuk T, Schwarz E, Brown J, Crawford B, Dickson P (). Analysis of non-reducing end (NRE) of glycosaminoglycans for the diagnosis and monitoring of therapy in Mucpolysaccharidosis type I [Abstract]. Mol Genet Metab.
  14. Pasquali M, Schwarz E, Yuzyuk T, De Biase I, Longo N (). Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency [Abstract]. J Inherit Metab Dis, 36(Suppl 2), S315-316.
  15. Viau K, Ernst SL, Pasquali M, Botto LD, Hedlund GL, Longo N (). Biochemical predictors of long-term outcome in patients with Guanidinoacetate Methyltransferase (GAMT) deficiency [Abstract]. J Inherit Metab Dis, 36(Suppl. 2), S104.
  16. Held PC, Schwarz E, Malmquist M, Pasquali (). Evaluation of a LC/MS/MS method for quantitative analysis of amino acids. 11th International Congress of Inborn errors of metabolism. San Diego, CA [Abstract]. Molec Genet Metab, 98(106), Abs 190.
  17. Schwarz EL, Barton JB, Sakashita C, Openshaw A, Pasquali M (). Electrophoretic separation of glycosaminoglycans: effect of age and medications. 11th International Congress of Inborn errors of Metabolism. San Diego, CA [Abstract]. Molec Genet Metab, 98(106), Abs 468.
  18. Longo N, Amat di San Filippo C, Vanzo R, Botto LD, Pasquali M (). Partial carnitine transporter deficiency in a patient with carnitine palmitovyltransferease-2 deficiency. 11th International Congress of Inborn errors of Metabolism, San Diego, CA [Abstract]. Molec Genet Metab, 98(50), Abs. 306.
  19. Vanzo R, Ernst SL, Botto LD, Pasquali M, Longo N (). Glutaric acidemia type I in Utah. 11th International Congress of Inborn errors of Metabolism, San Diego, CA [Abstract]. Molec Genet Metab, 98(104), Abs. 541.
  20. Pasquali M, Haslip C, Keune F, Randall H, Longo N (). Changes with age of collection in the concentration of amino acids and acylcarnitines in blood spots from newborns. 11th Congress of Inborn errors of Metabolism. San Diego, CA [Abstract]. Molec Genet Metab, 98(106), Abs 549.
  21. Richardson L, Morlan NJ, Dobrowolski P, Pasquali M (). Effect of prolonged storage on the concentration of amino acids and acylacarnitines in blood spots [Abstract]. Molec Genet Metab, 93(260), Abs. 74.
  22. Cassanello M, Caruso U, Cerone R, Schiaffino MC, Longo N, Pasquali M (). Primary carnitine deficiency in asymptomatic adult female diagnosed by low free carnitine in the newborn [Abstract]. J Inherit Metab Dis, 30(Suppl 4), Abs. 016-P.
  23. Liu A, Alston M, Pasquali M (2007). Quantitative analysis of urine acylglycines by UPLC-ES/MS/MS [Abstract]. Clin Chem, 53(A210), (D160).
  24. Liu A, Guymon R, Johnson DW, Pasquali M (2007). Analysis and separation of plasma glutarylcarnitine by UPLC-MS/MS [Abstract]. Molec Genet Metab, 90, 49.
  25. Schwarz E, Longo N, Pasquali M (November 4-8, 2003). Effect of vitamin C on collagen and lysyl hydroxylase RNA in fibroblasts from patients with Ehlers-Danlos Syndrome type VI [Abstract]. 53rd Annual Meeting American Society of Human Genetics, 1623, 447.
  26. Pasquali M, Hobert JA, Liu A, Longo N, Singh RH (2-6 September, 2003). Stability of sodium phenylbutyrate in combination with common liquid and solid foods [Abstract]. IX International Congress on Inborn Errors of Metabolism, 156P, 78.
  27. Pasquali M, Singh RH, Kennedy MJ, Hobert J, Acosta P, Huntington K, Steiner RD, Longo N, Elsas LJ (June 26-29, 2002). Pyridinium cross-links: a parameter of bone matrix turnover in phenylketonuria [Abstract]. 5th Meeting of the International Society for Neonatal Screening, P47, 105.
  28. Pasquali M, Longo N, Evinger JD, Dembure PP, Byers P, Elsas LJ (May 21-25, 1997). Two abnormal patterns of pyridinium cross-link formation in skin fibroblasts from patients with Ehlers-Danlos Syndrome type VI [Abstract]. Proc. 7th International Congress of Inborn Errors of Metabolism, O43, 81.
  29. Pasquali M, Still MJ, Evinger JD, Dembure PP, Longo N, Elsas LJ (1996). Effect of vitamin C on pyridinium cross link formation in skin fibroblasts from patients with Ehlers Danlos syndrome type VI [Abstract]. J Invest Medicine, 3, 226A.
  30. Pasquali M, Dembure PP, Still MJ, Elsas LJ (May 1994). Ehlers Danlos syndrome type VI:diagnosis by urinary pyridinium cross links [Abstract]. Proc. VI International Congress Inborn Errors of Metabolism, W24.4, 150.
  31. Pasquali M, Still MJ, Evinger JD, Dembure PP, Elsas LJ (1994). Pyridinium cross links in normal and abnormal skin collagen [Abstract]. Am J Hum Genet, 55, 1021.
  32. Pasquali M, Dembure PP, Still MJ, Elsas LJ (1993). Altered urinary excretion of pyridinium cross links in Ehlers Danlos Syndrome type VI [Abstract]. Am J Hum Genet, 53, 939.
  33. Braibanti A, Fisicaro E, Pasquali M (December 1984). Relation between electrical and chemical calibrations in flow microcalorimetry [Abstract]. Acta VI Convegno Nazionale Calorimetria ed Analisi Termica, P16-P19.
  34. Braibanti A, Dallavalle F, Fisicaro E, Mori G, Pasquali M (October 1984). I coefficienti statistici metallo legante e macromolecola legante [Abstract]. Acta XIX Congresso Nazionale Associazione Italiana Chimica Fisica, 64-65.
  35. Braibanti A, Dallavalle F, Fisicaro E, Mori G, Pasquali M (September 1984). Valutazione termodinamica dell'effetto chelato [Abstract]. Acta XV Congresso Nazionale Societa' Chimica Italiana, 300-301.
  36. Braibanti A, Dallavalle F, Fisicaro E, Mori G, Pasquali M (29 July-3 August 1984). Evaluation of cooperativity effects from thermodynamic data of metal ligand and macromolecule ligand equilibria [Abstract]. XXIII International Conference on Coordination Chemistry, 500.
  37. Braibanti A, Dallavalle F, Fisicaro E, Mori G, Pasquali M (June 1984). The use of the partition function in metal ligand and macromolecule ligand equilibria [Abstract]. Acta XI Convegno Nazionale Gruppo Termodinamica dei Complessi.
  38. Braibanti A, Bruschi C, Pasquali M (30 May-2 June 1983). Assessment of models in metal proton ligand equilibria: Precision and accuracy of potentiometric and calorimetric determinations [Abstract]. Acta X Congresso Nazionale Gruppo Termodinamica dei Complessi, 57-58.
  39. Braibanti A, Pasquali M (1983). Precision and accuracy in potentiometric and calorimetric determinations [Abstract]. Acta International School on Metal Complexes in Solution, 3-8.
  40. Braibanti A, Dallavalle F, Mori G, Pasquali M (1983). Chelate and cooperativity effect in metal ligand and protein ligand binding [Abstract]. Acta International Symposium on Thermodynamics of Proteins and Biological Membranes, P1-P2.
  41. Braibanti A, Dallavalle F, Mori G, Pasquali M (October 1982). The evaluation of chelate and cooperativity effects [Abstract]. Acta XVII Congresso Nazionale Chimica Fisica, 72-73.
  42. Braibanti A, Dallavalle F, Mori G, Pasquali M (June 1982). Thermodynamic properties of DL homoserine complexes with divalent metals in acqueous solution [Abstract]. Acta IX Convegno Nazionale Gruppo Termodinamica dei Complessi, 16-17.
  43. Yuzyuk T, Thomas A, Liu A, De Biase I, Viau KS, Botto LD, Pasquali M, Longo N ().

    LYSINE RESTRICTION AND ARGININE SUPPLEMENTATION IN TREATMENT OF TWO PATIENTS WITH PYRIDOXINE DEPENDENT EPILEPSY

    [Abstract]. 117(3), 296 (Abs 130).
  44. Frigeni M, Balakrishnan B, Ingoglia F, Yin X, Pasquali M, Longo N ().

    Decreased stability of the OCTN2 carnitine transporter in patients with primary carnitine deficiency

    [Abstract]. 39(Suppl 1), S46 O-035.

Other

  1. Braibanti A, Mori G, Pasquali M, Sansebastiano G (1985). Metodo voltammetrico 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, p. 13).
  2. 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.
  3. 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.