Nicola Longo

Title(s)Hs Clinical Instructor, Human Genetics
SchoolMedicine
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    1. Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8. Mol Genet Metab. 2024 Oct 12; 143(3):108595. Longo N, Voss LA, Frigeni M, Balakrishnan B, Pasquali M. PMID: 39418753.
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    2. A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies. J Inherit Metab Dis. 2024 Oct 09. Holida M, Linhart A, Pisani A, Longo N, Eyskens F, Goker-Alpan O, Wallace E, Deegan P, Tøndel C, Feldt-Rasmussen U, Hughes D, Sakov A, Rocco R, Almon EB, Alon S, Chertkoff R, Warnock DG, Waldek S, Wilcox WR, Bernat JA. PMID: 39381863.
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    3. Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency. medRxiv. 2024 Sep 10. 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 H. PMID: 39371127; PMCID: PMC11451665.
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    4. Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108541. Christ SE, Arnold G, Lichter-Konecki U, Berry GT, Grange DK, Harding CO, Jurecki E, Levy H, Longo N, Morotti H, Sacharow S, Thomas J, White DA. PMID: 39059270.
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    5. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. Mol Genet Metab. 2024 May; 142(1):108362. Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S. PMID: 38452609.
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    6. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. Am J Med Genet A. 2024 05; 194(5):e63516. Zhao J, Longo N, Lewis RG, Nicholas TJ, Boyden SE, Andrews A, Larson A, Undiagnosed Diseases Network, Bayrak-Toydemir P, Botto LD, Mao R. PMID: 38168088; PMCID: PMC11003828.
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    7. Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria. Mol Genet Metab. 2024 Jan; 141(1):108114. Burton BK, Clague GE, Harding CO, Kucuksayrac E, Levy DG, Lindstrom K, Longo N, Maillot F, Muntau AC, Rutsch F, Zori RT. PMID: 38142628.
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    8. Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Neurology. 2023 07 18; 101(3):e238-e252. Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M, MMPOWER-3 Trial Investigators. PMID: 37268435; PMCID: PMC10382259.
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    9. Challenges and strategies for clinical trials in propionic and methylmalonic acidemias. Mol Genet Metab. 2023 07; 139(3):107612. Vockley J, Burton B, Jurecka A, Ganju J, Leiro B, Zori R, Longo N. PMID: 37245378.
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    10. Phenylketonuria and the brain. Mol Genet Metab. 2023 05; 139(1):107583. Rovelli V, Longo N. PMID: 37105048.
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    11. A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies. Clin Case Rep. 2023 Jan; 11(1):e6810. Geilmann S, Solstad R, Palmquist R, Flores Daboub J, Botto LD, Grubb PH, Bonkowsky JL, Longo N, Malone Jenkins S. PMID: 36698515; PMCID: PMC9850852.
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    12. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. Neurology. 2022 Dec 05; 99(23):e2627-e2636. Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C, International PDE Consortium. PMID: 36008148; PMCID: PMC9754645.
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    13. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):114-126. Burton BK, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker KJ, Christ SE, Grant ML, Harding CO, Huijbregts SCJ, Longo N, McNutt MC, Nguyen-Driver MD, Santos Pessoa AL, Rocha JC, Sacharow S, Sanchez-Valle A, Sivri HS, Vockley J, Walterfang M, Whittle S, Muntau AC. PMID: 36027720.
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    14. Clinical Reasoning: Pediatric Seizures of Unknown Cause. Neurology. 2022 06 14; 98(24):1023-1028. Tseng LA, Hoytema van Konijnenburg EMM, Longo N, Andrews A, van Wegberg A, Coene KLM, Coughlin CR, van Karnebeek CDM. PMID: 35470136.
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    15. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab. 2022 05; 136(1):4-21. Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C. PMID: 35367141.
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    16. Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy. Mol Genet Metab. 2022 04; 135(4):350-356. Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM, Coughlin CR, van Karnebeek CDM. PMID: 35279367.
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    17. Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics. Pediatr Res. 2022 11; 92(5):1364-1369. Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T, Nadauld LD, Bleyl SB, Chowdhury S, Ostrander B, Flores-Daboub J, Longo N, Tristani-Firouzi M, Hobbs C, Bonkowsky JL, Brunelli L. PMID: 35115709; PMCID: PMC10024604.
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    18. Biomarkers for drug development in propionic and methylmalonic acidemias. J Inherit Metab Dis. 2022 03; 45(2):132-143. Longo N, Sass JO, Jurecka A, Vockley J. PMID: 35038174; PMCID: PMC9303879.
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    19. Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria. Am J Med Genet A. 2022 03; 188(3):768-778. Bilder DA, Arnold GL, Dimmock D, Grant ML, Janzen D, Longo N, Nguyen-Driver M, Jurecki E, Merilainen M, Amato G, Waisbren S. PMID: 34826353; PMCID: PMC9299696.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    20. Creatine metabolism in patients with urea cycle disorders. Mol Genet Metab Rep. 2021 Dec; 29:100791. Ingoglia F, Chong JL, Pasquali M, Longo N. PMID: 34471603; PMCID: PMC8387902.
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    21. Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):60-64. 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. PMID: 34389248.
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    22. Pathophysiology and management of classic galactosemic primary ovarian insufficiency. Reprod Fertil. 2021 07; 2(3):R67-R84. Hagen-Lillevik S, Rushing JS, Appiah L, Longo N, Andrews A, Lai K, Johnson J. PMID: 35118398; PMCID: PMC8788619.
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    23. Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Mol Genet Metab. 2021 02; 132(2):119-127. Waisbren S, Burton BK, Feigenbaum A, Konczal LL, Lilienstein J, McCandless SE, Rowell R, Sanchez-Valle A, Whitehall KB, Longo N. PMID: 33485801; PMCID: PMC8684368.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    24. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders. Mol Genet Metab. 2021 01; 132(1):19-26. Longo N, Diaz GA, Lichter-Konecki U, Schulze A, Inbar-Feigenberg M, Conway RL, Bannick AA, McCandless SE, Zori R, Hainline B, Ah Mew N, Canavan C, Vescio T, Kok T, Porter MH, Berry SA. PMID: 33388234; PMCID: PMC8655853.
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    25. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 01; 44(1):178-192. 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, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. PMID: 33200442.
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    26. Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth. Mol Genet Metab. 2020 12; 131(4):380-389. Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N. PMID: 33234470; PMCID: PMC7749858.
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    27. Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1. Cold Spring Harb Mol Case Stud. 2020 08; 6(4). Flores Daboub JA, Grimmer JF, Frigerio A, Wooderchak-Donahue W, Arnold R, Szymanski J, Longo N, Bayrak-Toydemir P. PMID: 32843429; PMCID: PMC7476407.
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    28. Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up. Mol Genet Metab. 2020 08; 130(4):239-246. Burton BK, Longo N, Vockley J, Grange DK, Harding CO, Decker C, Li M, Lau K, Rosen O, Larimore K, Thomas J, PAL-002 and PAL-004 Investigators. PMID: 32593547.
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    29. Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients. Clin Chim Acta. 2020 Oct; 509:126-134. De Biase I, Gherasim C, La'ulu SL, Asamoah A, Longo N, Yuzyuk T. PMID: 32533987.
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    30. Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts. Pharmacol Res Perspect. 2019 12; 7(6):e00525. Gorshkov K, Wang AQ, Sun W, Fisher E, Frigeni M, Singleton M, Thorne N, Class B, Huang W, Longo N, Do MT, Ottinger EA, Xu X, Zheng W. PMID: 31859463; PMCID: PMC6924099.
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    31. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2020 01; 129(1):13-19. Anderson DR, Viau K, Botto LD, Pasquali M, Longo N. PMID: 31836396.
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    32. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Mol Genet Metab. 2019 08; 127(4):336-345. Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA. PMID: 31326288.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    33. Pegvaliase: Immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapy. Mol Genet Metab. 2019 Sep - Oct; 128(1-2):84-91. Hausmann O, Daha M, Longo N, Knol E, Müller I, Northrup H, Brockow K. PMID: 31375398.
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    34. Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2019 05; 127(1):64-73. Rovelli V, Manzoni F, Viau K, Pasquali M, Longo N. PMID: 31031081.
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    35. Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers. Mol Genet Metab. 2019 04; 126(4):406-412. Smith N, Longo N, Levert K, Hyland K, Blau N. PMID: 30922814.
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    36. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2019 08; 21(8):1851-1867. Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO. PMID: 30546086; PMCID: PMC6752676.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    37. Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism. J Emerg Med. 2019 Jan; 56(1):e5-e8. Bennett EE, Hummel K, Smith AG, Longo N. PMID: 30420308.
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    38. Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders. Mol Genet Metab. 2018 11; 125(3):251-257. Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N. PMID: 30217721.
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    39. Effect of genotype on galactose-1-phosphate in classic galactosemia patients. Mol Genet Metab. 2018 11; 125(3):258-265. Yuzyuk T, Balakrishnan B, Schwarz EL, De Biase I, Hobert J, Longo N, Mao R, Lai K, Pasquali M. PMID: 30172461.
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    40. Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria. Mol Genet Metab. 2018 11; 125(3):217-227. Zori R, Thomas JA, Shur N, Rizzo WB, Decker C, Rosen O, Li M, Schweighardt B, Larimore K, Longo N. PMID: 30146451.
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    41. Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study. Orphanet J Rare Dis. 2018 07 04; 13(1):108. Longo N, Zori R, Wasserstein MP, Vockley J, Burton BK, Decker C, Li M, Lau K, Jiang J, Larimore K, Thomas JA. PMID: 29973227; PMCID: PMC6031112.
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    42. Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial. Mol Genet Metab. 2018 05; 124(1):20-26. Harding CO, Amato RS, Stuy M, Longo N, Burton BK, Posner J, Weng HH, Merilainen M, Gu Z, Jiang J, Vockley J, PRISM-2 Investigators. PMID: 29628378.
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    43. Biochemical changes and clinical outcomes in 34 patients with classic galactosemia. J Inherit Metab Dis. 2018 03; 41(2):197-208. Yuzyuk T, Viau K, Andrews A, Pasquali M, Longo N. PMID: 29350350.
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    44. Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial. Mol Genet Metab. 2018 03; 123(3):347-356. Charrow J, Fraga C, Gu X, Ida H, Longo N, Lukina E, Nonino A, Gaemers SJM, Jouvin MH, Li J, Wu Y, Xue Y, Peterschmitt MJ. PMID: 29358012.
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    45. Functional and molecular studies in primary carnitine deficiency. Hum Mutat. 2017 12; 38(12):1684-1699. Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N. PMID: 28841266; PMCID: PMC5665702.
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    46. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years. Mol Genet Metab. 2017 11; 122(3):46-53. Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J. PMID: 28916119.
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    47. Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis. Cell Metab. 2017 Sep 05; 26(3):509-522.e6. 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. PMID: 28877455; PMCID: PMC5658052.
      View in: PubMed   Mentions: 112     Fields:    Translation:AnimalsCells
    48. Anaplerotic therapy in propionic acidemia. Mol Genet Metab. 2017 09; 122(1-2):51-59. Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, Pasquali M. PMID: 28712602; PMCID: PMC5612888.
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    49. Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle. Ann Nutr Metab. 2016; 68 Suppl 3:5-9. Longo N. PMID: 27931018.
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    50. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11; 375(6):545-55. Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. PMID: 27509102.
      View in: PubMed   Mentions: 204     Fields:    Translation:HumansCTClinical Trials
    51. Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy. Mol Genet Metab. 2016 07; 118(3):167-172. Yuzyuk T, Thomas A, Viau K, Liu A, De Biase I, Botto LD, Pasquali M, Longo N. PMID: 27324284.
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    52. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. J Dev Behav Pediatr. 2016 05; 37(4):322-6. Thurm A, Himelstein D, D'Souza P, Rennert O, Jiang S, Olatunji D, Longo N, Pasquali M, Swedo S, Salomons GS, Carrillo N. PMID: 27096572; PMCID: PMC4907372.
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    53. Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency. JIMD Rep. 2017; 31:63-71. De Biase I, Viau KS, Liu A, Yuzyuk T, Botto LD, Pasquali M, Longo N. PMID: 27117294; PMCID: PMC5388644.
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    54. Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter. Biochim Biophys Acta. 2016 Jun; 1860(6):1334-42. Frigeni M, Iacobazzi F, Yin X, Longo N. PMID: 26994919; PMCID: PMC4838292.
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    55. 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. 2016 Apr 01; 1017-1018:145-152. Yuzyuk T, Liu A, Thomas A, Wilson JE, De Biase I, Longo N, Pasquali M. PMID: 26970849.
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    56. Carnitine transport and fatty acid oxidation. Biochim Biophys Acta. 2016 10; 1863(10):2422-35. Longo N, Frigeni M, Pasquali M. PMID: 26828774; PMCID: PMC4967041.
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    57. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34. Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. PMID: 26296711; PMCID: PMC4804346.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCTClinical Trials
    58. Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase. Mol Genet Metab. 2016 Feb; 117(2):164-71. Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM. PMID: 26043810.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCTClinical Trials
    59. Biochemical abnormalities in Pearson syndrome. Am J Med Genet A. 2015 Mar; 167A(3):621-8. Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N. PMID: 25691415.
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    60. Long-term safety and efficacy of sapropterin: the PKUDOS registry experience. Mol Genet Metab. 2015 Apr; 114(4):557-63. Longo N, Arnold GL, Pridjian G, Enns GM, Ficicioglu C, Parker S, Cohen-Pfeffer JL, Phenylketonuria Demographics, Outcomes and Safety Registry. PMID: 25724073.
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    61. Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. Genet Med. 2015 May; 17(5):365-73. Longo N, Siriwardena K, Feigenbaum A, Dimmock D, Burton BK, Stockler S, Waisbren S, Lang W, Jurecki E, Zhang C, Prasad S. PMID: 25232857.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCTClinical Trials
    62. Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial. Lancet. 2014 Jul 05; 384(9937):37-44. Longo N, Harding CO, Burton BK, Grange DK, Vockley J, Wasserstein M, Rice GM, Dorenbaum A, Neuenburg JK, Musson DG, Gu Z, Sile S. PMID: 24743000; PMCID: PMC4447208.
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    63. National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI). Mol Genet Metab. 2014 Jun; 112(2):85-6. Greene CL, Longo N. PMID: 24745849.
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    64. Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. J Inherit Metab Dis. 2014 Mar; 37(2):231-6. Pasquali M, Schwarz E, Jensen M, Yuzyuk T, DeBiase I, Randall H, Longo N. PMID: 24276113.
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    65. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25. Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. PMID: 24268530.
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    66. Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metab. 2013 Nov; 110(3):255-62. Viau KS, Ernst SL, Pasquali M, Botto LD, Hedlund G, Longo N. PMID: 24071436.
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    67. The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders. Biochem Biophys Res Commun. 2013 Aug 09; 437(4):637-41. Ndukwe Erlingsson UC, Iacobazzi F, Liu A, Ardon O, Pasquali M, Longo N. PMID: 23867825; PMCID: PMC3773513.
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    68. Response to chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. Hum Mutat. 2013 Apr; 34(4):656. Pasquali M, Longo N. PMID: 23520116.
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    69. Psychiatric symptoms in adults with phenylketonuria. Mol Genet Metab. 2013 Mar; 108(3):155-60. Bilder DA, Burton BK, Coon H, Leviton L, Ashworth J, Lundy BD, Vespa H, Bakian AV, Longo N. PMID: 23339767.
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    70. A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics. Mol Genet Metab. 2013 Jan; 108(1):8-12. Burton BK, Leviton L, Vespa H, Coon H, Longo N, Lundy BD, Johnson M, Angelino A, Hamosh A, Bilder D. PMID: 23266195.
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    71. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct; 44(10):1152-5. Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR. PMID: 22922874.
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    72. Glutaric acidemia type 1: outcomes before and after expanded newborn screening. Mol Genet Metab. 2012 Aug; 106(4):430-8. Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N. PMID: 22728054.
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    73. SIMD statement on investigational new drugs for rare disease therapies. Mol Genet Metab. 2012 Mar; 105(3):367. Longo N. PMID: 22300846.
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    74. Genotype-phenotype correlation in primary carnitine deficiency. Hum Mutat. 2012 Jan; 33(1):118-23. Rose EC, di San Filippo CA, Ndukwe Erlingsson UC, Ardon O, Pasquali M, Longo N. PMID: 21922592; PMCID: PMC3240685.
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    75. Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria. J Inherit Metab Dis. 2011 Aug; 34(4):963-71. Viau KS, Wengreen HJ, Ernst SL, Cantor NL, Furtado LV, Longo N. PMID: 21556836.
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    76. Newborn screening and inborn errors of metabolism. Am J Med Genet C Semin Med Genet. 2011 Feb 15; 157C(1):1-2. Pasquali M, Longo N. PMID: 21337697.
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    77. Disorders of creatine transport and metabolism. Am J Med Genet C Semin Med Genet. 2011 Feb 15; 157C(1):72-8. Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M. PMID: 21308988.
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    78. Using information prescriptions to refer patients with metabolic conditions to the Genetics Home Reference website. J Med Libr Assoc. 2011 Jan; 99(1):70-6. Beaudoin DE, Longo N, Logan RA, Jones JP, Mitchell JA. PMID: 21243058; PMCID: PMC3016649.
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    79. Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. Biochim Biophys Acta. 2011 Mar; 1812(3):312-20. Filippo CA, Ardon O, Longo N. PMID: 21126579; PMCID: PMC3026072.
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    80. Recurrent liver failure in a 25-year-old female. Liver Transpl. 2010 Sep; 16(9):1049-53. Salek J, Byrne J, Box T, Longo N, Sussman N. PMID: 20818742.
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    81. Creatine transporter deficiency in two half-brothers. Am J Med Genet A. 2010 Aug; 152A(8):1979-83. Ardon O, Amat di San Filippo C, Salomons GS, Longo N. PMID: 20602486.
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    82. 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. 2009 Aug; 66(2):230-5. Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M, Longo N, Pasquali M. PMID: 19390483.
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    83. Developing a National Registry for conditions identifiable through newborn screening. Genet Med. 2009 Mar; 11(3):176-82. Botkin JR, Anderson R, Staes C, Longo N. PMID: 19367191.
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    84. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009 Jun; 32(3):333-42. Longo N. PMID: 19234759.
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    85. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2009 Mar; 96(3):85-90. Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A. PMID: 19157942; PMCID: PMC3219055.
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    86. Cardiomyopathy and carnitine deficiency. Mol Genet Metab. 2008 Jun; 94(2):162-6. Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N. PMID: 18337137; PMCID: PMC2430214.
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    87. Progressive cerebral vascular degeneration with mitochondrial encephalopathy. Am J Med Genet A. 2008 Feb 01; 146A(3):361-7. Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher RC, Enns GM. PMID: 18203188.
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    88. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab. 2008 Apr; 93(4):363-70. Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. PMID: 18155630.
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    89. Development of requirements and a pilot registry for long-term follow-up of children with heritable conditions. AMIA Annu Symp Proc. 2007 Oct 11; 977. Holbrook R, Staes C, Longo N, Botkin J, Anderson R, Mitchell J. PMID: 18694077.
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    90. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab. 2007 Apr; 90(4):441-5. 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. PMID: 17126586.
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    91. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet. 2006 Nov; 79(5):935-41. Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. PMID: 17033969; PMCID: PMC1698566.
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    92. Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum Mutat. 2006 Jun; 27(6):513-23. Amat di San Filippo C, Pasquali M, Longo N. PMID: 16652335.
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    93. Inborn errors of metabolism: new challenges with expanded newborn screening programs. Am J Med Genet C Semin Med Genet. 2006 May 15; 142C(2):61-3. Longo N. PMID: 16602098.
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    94. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006 May 15; 142C(2):77-85. Longo N, Amat di San Filippo C, Pasquali M. PMID: 16602102; PMCID: PMC2557099.
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    95. Biochemical findings in common inborn errors of metabolism. Am J Med Genet C Semin Med Genet. 2006 May 15; 142C(2):64-76. Pasquali M, Monsen G, Richardson L, Alston M, Longo N. PMID: 16602099.
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    96. Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet. 2006 May 15; 142C(2):86-94. Hedlund GL, Longo N, Pasquali M. PMID: 16602100; PMCID: PMC2556991.
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    97. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Mol Genet Metab. 2006 Aug; 88(4):327-33. Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA. PMID: 16697227.
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    98. Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab. 2006 Jun; 88(2):123-30. Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N. PMID: 16406646.
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    99. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Hum Mutat. 2005 Mar; 25(3):306-13. Dobrowolski SF, McKinney JT, Amat di San Filippo C, Giak Sim K, Wilcken B, Longo N. PMID: 15714519.
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    100. A primer on newborn screening. Adv Neonatal Care. 2004 Oct; 4(5):306-17. Bryant KG, Horns KM, Longo N, Schiefelbein J. PMID: 15517524.
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    101. Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype. Am J Med Genet A. 2004 Sep 15; 130A(1):88-91. Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N. PMID: 15368501.
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    102. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet A. 2004 Apr 15; 126A(2):150-5. Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N. PMID: 15057979.
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    103. 6q subtelomeric deletion: is there a recognizable syndrome? Clin Dysmorphol. 2004 Apr; 13(2):103-106. Stevenson DA, Brothman AR, Carey JC, Chen Z, Dent KM, Bale JF, Longo N. PMID: 15057127.
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    104. Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter. J Biol Chem. 2004 Feb 20; 279(8):7247-53. Amat di San Filippo C, Longo N. PMID: 14665638.
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    105. Mitochondrial encephalopathy. Neurol Clin. 2003 Nov; 21(4):817-31. Longo N. PMID: 14743651.
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    106. Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency. J Biol Chem. 2003 Nov 28; 278(48):47776-84. Amat di San Filippo C, Wang Y, Longo N. PMID: 14506273.
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    107. Gene expression in human cells with mutant insulin receptors. Biochem Biophys Res Commun. 2003 Aug 08; 307(4):1013-20. Melis R, Pruett PB, Wang Y, Longo N. PMID: 12878213.
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    108. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet. 2002 Jun 01; 11(12):1465-75. Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D. PMID: 12023989.
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