NICOLA LONGO portrait
  • Professor, Pediatrics
  • Adjunct Professor, Pathology
  • Adjunct Professor, Nutrition & Integrative Physiology
801-585-2457

Research Keywords

  • Therapy of Metabolic Disorders
  • Molecular Genetics of Inherited Insulin-Resistant Syndromes
  • Molecular Basis of Carnitine Deficiency
  • Inherited Insulin-Resistant Syndromes

Languages

  • English, fluent.

Publications

  • Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T & Nadauld LD (2022). Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics. Pediatric research. Vol. 92, 136413691364-1369. Published, 11/01/2022.
  • Ventura P, Sardh E, Longo N, Balwani M & Plutzky J (2022). Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran. Expert review of gastroenterology & hepatology. Vol. 16, 879894879-894. Published, 10/01/2022.
  • Burton BK, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker KJ, Christ SE, Grant ML, Harding CO, Huijbregts SCJ & Longo N (2022). Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. Molecular genetics and metabolism. Vol. 137, 114126114-126. Published, 10/01/2022.
  • Longo N & Sass JO (2022). Biomarkers for drug development in propionic and methylmalonic acidemias. Journal of inherited metabolic disease. Vol. 45, 132143132-143. Published, 05/01/2022.
  • Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA & Gupta P (2022). The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?. Molecular genetics and metabolism. Vol. 136, 4214-21. Published, 05/01/2022.
  • Bilder DA, Arnold GL, Dimmock D, Grant ML & Janzen D (2022). Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria. American journal of medical genetics. Part A. Vol. 188, 768778768-778. Published, 04/01/2022.
  • Häberle J, Moore MB, Haskins N, Rüfenacht V, Rokicki D & Rubio-Gozalbo E (2022). Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. Human mutation. Vol. 42, 162416361624-1636. Published, 03/01/2022.
  • Qi Y, Patel G, Henshaw J, Gupta S, Olbertz J, Larimore K, Harding CO & Merilainen M (2022). Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria. (pp. 189419051894-1905). Vol. 14. Clinical and translational science. Published, 02/01/2022.
  • Hart K, Rohrwasser A, Wallis H, Golsan H, Shao J, Anderson T & Wang X (2022). Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency. Molecular genetics and metabolism. Vol. 134, 606460-64. Published, 02/01/2022.
  • Coughlin CR, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM, Hartmann H, Kara M & Kristensen E (2021). Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease. Vol. 44, 178192178-192. Published, 12/01/2021.
  • Vockley J, Burton B, Berry G, Longo N, Phillips J & Sanchez-Valle A (2021). Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. (pp. 253263253-263). Vol. 44. Journal of inherited metabolic disease. Published, 12/01/2021.
  • Di Lorenzo G, Zappavigna S, Crocetto F, Giuliano M, Ribera D, Morra R, Scafuri L, Verde A, Bruzzese D, Iaccarino S, Costabile F, Onofrio L, Viggiani M & Palmieri A (2021). Assessment of Total, PTEN-, and AR-V7+ Circulating Tumor Cell Count by Flow Cytometry in Patients with Metastatic Castration-Resistant Prostate Cancer Receiving Enzalutamide. Clinical genitourinary cancer. Vol. 19, e286e298e286-e298. Published, 10/01/2021.
  • Cuocolo R, Stanzione A, Faletti R, Gatti M, Calleris G, Fornari A & Gentile F (2021). MRI index lesion radiomics and machine learning for detection of extraprostatic extension of disease: a multicenter study. European radiology. Vol. 31, 757575837575-7583. Published, 09/01/2021.
  • Vockley J, Longo N & Madden M (2021). Dietary management and major clinical events in patients with long-chain fatty acid oxidation disorders enrolled in a phase 2 triheptanoin study. (pp. 293298293-298). Vol. 41. Clinical nutrition ESPEN. Published, 09/01/2021.
  • Waisbren S, Burton BK, Feigenbaum A, Konczal LL & Lilienstein J (2021). Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Molecular genetics and metabolism. Vol. 132, 119127119-127. Published, 08/01/2021.
  • Longo N, Diaz GA, Lichter-Konecki U, Schulze A, Inbar-Feigenberg M, Conway RL, Bannick AA & McCandless SE (2021). Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders. Molecular genetics and metabolism. Vol. 132, 192619-26. Published, 08/01/2021.
  • Manzoni F, Salvatici E & Burlina A (2021). Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth. Molecular genetics and metabolism. Vol. 131, 380389380-389. Published, 07/01/2021.
  • Burton BK, Longo N, Vockley J, Grange DK, Harding CO & Decker C (2021). Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up. (pp. 239246239-246). Vol. 130. Molecular genetics and metabolism. Published, 05/01/2021.
  • De Biase I, Gherasim C & La'ulu SL (2021). Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients. Clinica chimica acta; international journal of clinical chemistry. Vol. 509, 126134126-134. Published, 05/01/2021.
  • Anderson DR & Viau K (2020). Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. Molecular genetics and metabolism. Vol. 129, 131913-19. Published, 11/01/2020.