1.Dall'Asta V, Gazzola GC, Franchi-Gazzola R, Bussolati O, Longo N, Guidotti GG (1983) Pathways of L-glutamic acid transport in cultured human fibroblasts. J Biol Chem 258: 6371-6379.

2.Gazzola GC, Dall'Asta V, Franchi-Gazzola R, Bussolati O, Longo N, Guidotti GG (1984) Post-translational control by carrier availability of amino acid transport in fetal human fibroblasts. Biochem Biophys Res Commun 120: 172-178.

3.Gazzola GC, Bussolati O, Longo N, Dall'Asta V, Franchi-Gazzola R, Guidotti GG (1984) Effect of in vitro ageing on the transport of neutral amino acids in human fibroblasts. in Cellular Ageing (Sauer HW ed), Monogr Devl Biol (Karger, Basel) 17: 234-244.

4.Dall'Asta V, Franchi-Gazzola R, Bussolati O, Longo N, Gazzola GC (1984) Recognition properties of Na⁺-dependent amino acid transport systems in cultured human fibroblasts. Ital J Biochem 33: 208A-209A.

5.Longo N, Franchi-Gazzola R, Bussolati O, Dall'Asta V, Foà PP, Guidotti GG, Gazzola GC (1985) Effect of insulin on the activity of amino acid transport systems in cultured human fibroblasts. Biochim Biophys Acta 844: 216-223.

6.Bussolati O, Laris PC, Longo N, Dall'Asta V, Franchi-Gazzola R, Guidotti GG, Gazzola GC (1986) Effect of extracellular potassium on amino acid transport and membrane potential in fetal human fibroblasts.  Biochim Biophys Acta 854: 240-250.

7.Dall'Asta V, Gazzola GC, Longo N, Bussolati O, Franchi-Gazzola R, Guidotti GG (1986) Perturbation of Na⁺ and K⁺ gradients in  human fibroblasts incubated in unsupplemented saline solutions. Biochim Biophys Acta 860: 1-8.

8.Dall'Asta V, Rebecchi F, Longo N, Bussolati O, Gazzola GC (1986) Serum dependent changes of intracellular Na⁺ and K⁺ concentrations in cultured human fibroblasts. Cell Biol Int Rep 10(3): 156.

9.Bussolati O, Laris PC, Squassoni E, Ferrari MG, Longo N, Dall'Asta V, Guidotti GG (1986) Na,K-ATPase-mediated hyperpolarization stimulates amino acid transport in cultured human fibroblasts. Cell Biol Int Rep 10(3): 157.

10.Elsas LJ, Longo N (1987) Impaired insulin binding and excess glucose transport in fibroblasts from a patient with leprechaunism. Enzyme 38: 184-193.

11.Endo F, Nagata N, Priest JH, Longo N, Elsas LJ (1987) Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism. Am J Hum Genet 41: 402-417.

12.Bussolati O, Laris PG, Nucci FA, Dall'Asta V, Longo N, Guidotti GG, Gazzola GC (1987) The dependence of L-arginine accumulation on the membrane potential in cultured human fibroblasts. Am J Physiol (Cell 22) 253: C391-C397.

13.Longo N, Griffin LD, Elsas LJ (1988) Influx and efflux of 3-O-methyl-D-glucose by cultured human fibroblasts. Am J Physiol (Cell 23) 254: C628-C633.

14.Longo N, Franchi-Gazzola R, Bussolati O, Dall'Asta V, Nucci FA, Gazzola GC (1988) Amino acid and sugar transport in mouse 3T3 cells expressing activated ras and neu oncogenes. Ann NY Acad Sci 551: 374-377.

15.Longo N, Franchi-Gazzola R, Bussolati O, Dall'Asta V, Nucci FA, Spisni A, Gazzola GC (1988) Glycine transport by cultured human fibroblasts. Biochem Biophys Res Commun 152: 617-622.

16.Longo N, Griffin LD, Shuster RC, Langley S, Elsas LJ (1989) Increased glucose transport by human fibroblasts with a heritable defect in insulin binding. Metabolism 38: 690-697.

17.Longo N, Fotion TR, Langley S, Elsas LJ (1989) Restriction fragment length polymorphisms of the insulin receptor gene in families with insulin resistance and leprechaunism. Am J Med Sci 298: 366-370.

18.Longo N, Shuster RC, Griffin LD, Elsas LJ (1990) Insulin-receptor autophosphorylation and kinase activity are constitutively increased in fibroblasts cultured from a patient with heritable insulin resistance. Biochem Biophys Res Commun 167: 1229-1234.

19.Longo N, Griffin LD, Elsas LJ (1991) A simple method for the evaluation of Rb⁺ influx and Na,K-pump stochiometry in adherent cells. Am J Physiol (Cell 29) 260: C1341-C1346.

20.Longo N, Griffin LD, Langley SD, Elsas LJ (1992) Glucose transport by cultured human fibroblasts: regulation by phorbol  esters and insulin. Biochim Biophys Acta 1104: 24-30.

21.Longo N, Langley SD, Griffin LD, Elsas LJ (1992) Reduced mRNA and a nonsense mutation in the insulin receptor gene produce heritable severe insulin resistance. Am J Hum Genet 50: 998-1007.

22.Longo N, Shuster RC, Griffin LD, Langley SD, Elsas LJ (1992) Activation of insulin receptor signaling by a single amino acid substitution in the transmembrane domain. J Biol Chem 267: 12416-12419.

23.Longo N, Langley SD, Griffin LD, Elsas LJ (1993) Activation of glucose transport by a natural mutation in the human insulin receptor. Proc Natl Acad Sci USA 90: 60-64.

24.Longo N (1993) Defective receptors for Platelet-Derived Growth Factor AA in human fibroblasts with mutant insulin receptors. Biochem Biophys Res Commun 197: 812-817.

25.Longo N, Singh R, Griffin LD, Langley SD, Parks JS, Elsas LJ (1994) Impaired growth in Rabson-Mendenhall syndrome: Lack of effect of growth hormone and Insulin-like Growth Factor I. J Clin Endocrinol Metab 79: 799-805.

26.Ekstrand AJ, Longo N, Hamid ML, Olson JJ, Collins VP, James CD (1994) Functional characterization of an EGF receptor with a truncated extracellular domain expressed in glioblastomas with EGFR gene amplification. Oncogene 9: 2313-2320.

27.Longo N, Langley SD, Griffin LD, Elsas LJ (1995) Two mutations in the insulin receptor gene of a patient with leprechaunism: Application to prenatal diagnosis. J Clin Endocrinol Metab 80: 1496-1501.

28.Ekstrand AJ, Liu L, He J, Hamid M, Longo N, Collins VP, James CD (1995) Altered subcellular location of an activated and tumour-associated EGF receptor. Oncogene 10: 1455-1460.

29.Longo N, Langley SD, Still MJ, Elsas LJ (1995) Prenatal analysis of the insulin receptor gene in a family with leprechaunism. Prenatal Diagnosis 15: 1070-1074.

30.Longo N (1996) Insulin stimulates the Na,K-ATPase and the Na/K/Cl cotransporter of human fibroblasts. Biochim Biophys Acta 1381: 28-44.

31.Longo N, Langley SD, Still MJ, Elsas LJ (1996) Mutational analysis of the insulin receptor: Arginine 86 plays an essential role in insulin binding and stimulation of glucose transport. Exp Clin Endocrinol Diabetes 104: 78-80.

32.Pasquali M, Still MJ, Vales T, Rosen RI, Evinger JD, Dembure PP, Longo N, Elsas LJ (1997) Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI. Proc Assoc Am Physicians 109: 33-41.

33.Longo N, Langley SD, Still M (1998) Role of arginine 86 of the insulin receptor in insulin binding and activation of glucose transport. Biochim Biophys Acta 1402:86-94.

34.Scaglia F, Wang Y, Singh RH, Dembure PP, Pasquali M, Fernhoff  PM, Longo N (1998) Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency. Genet Med 1: 34-39.

35. Scaglia F, Wang Y, Longo N (1999) Functional characterization of the carnitine transporter defective in primary carnitine deficiency. Arch Biochem Biophys 364: 99-106.

36. Wang Y, Ye J, Ganapathy V, Longo N (1999) Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. Proc Natl Acad Sci USA 96: 2356-2360.

37. Longo N, Wang Y, Pasquali M (1999) Progressive decline in insulin levels in Rabson-Mendenhall syndrome. J Clin Endocrinol Metab 84: 2623-2629.

38. Wang Y, Kelly MA, Cowan TM, Longo N (2000) A missense mutation in the OCTN2 gene associated with residual carnitine transport activity. Hum Mutat 15: 238-245. PubMed PMID: 10679939

39. Melendez PA, Longo N, Jimenez B, Cadilla CL (2000) Insulin-induced gene 33 mRNA expression in Chinese hamster ovary cells is insulin receptor dependent. J Cell Biochem 77: 432-444.

40. Wang Y, Meadows TA, Longo N (2000) Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency. J Biol Chem 275: 20782-20786. PubMed PMID: 10783384

41. Wang Y, Taroni F, Garavaglia B, Longo N (2000) Functional Analysis of Mutations in the OCTN2 Transporter Causing Primary Carnitine Deficiency: Lack of Genotype-Phenotype Correlation. Hum Mutat 16: 401-407. PubMed PMID: 11058897.

42. Longo N, Scaglia F, Wang Y (2001) Insulin increases the turnover rate of Na,K-ATPase in human fibroblasts. Am J Physiol (Cell) 280: C912-C919.

43. Longo N, Singh R, Elsas LJ (2001) Decreased half-life of Insulin-like Growth Factor-I in Rabson-Mendenhall syndrome. J Inherit Metab Dis 24: 546-550.

44.Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N (2001) Phenotype and Genotype Variation in Primary Carnitine Deficiency. Genet Med 3: 387-392. PubMed PMID: 11715001

45.Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D (2002) Genotype-phenotype correlation in inherited severe insulin-resistance. Human Molec Genet 11: 1465-1475.

46.Melis R, Pruett P, Wang Y, Longo N (2003) Gene expression in human cells with mutant insulin receptors. Biochem Biophys Res Commun 307: 1013-1020.

47. Amat di San Filippo C, Wang Y, Longo N (2003) Functional domains in the carnitine transporter OCTN2 defective in primary carnitine deficiency. J Biol Chem 278: 47776-47784. Epub 2003 Sep 23. PubMed PMID: 14506273

48.Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F,  Longo N (2004) Response to Therapy in Carnitine/Acylcarnitine Translocase (CACT) Deficiency due to a Novel Missense Mutation. Am J Med Genet 126A(2):150-155. PubMed PMID: 15057979.

49.Amat di San Filippo C, Longo N (2004) Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter. J Biol Chem 279: 7247-7253. Epub 2003 Dec 9. PubMed PMID: 14665638.

50. Stevenson DA, Brothman AR, Carey JC, Chen Z, Dent KM, Bale JF Jr, Longo N (2004) 6q subtelomeric deletion: is there a recognizable syndrome? Clin Dysmorphol 13(2):103-106.

51. McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF (2004) Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. Mol Genet Metab 82:112-120.

52. Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N (2004) Uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype. Am J Med Genet 130A:88-91.

53. Longo N, Fukao T, Singh R, Pasquali M, Barrios RG, Kondo N, Gibson KM (2004) Succinyl-CoA:3-Keto Acid Transferase (SCOT) Deficiency in a New Patient Homozygous for an R217X mutation. J Inherit Metab Dis 27(5): 691-692.

54. Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LTK, 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): 778-780. PubMed PMID: 15617188.

55. Dobrowolski SF, McKinney JT, Amat di San Filippo C, Sim KG, Wilcken B, Longo N (2005) Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Hum Mutat 25(3):306-313. PubMed PMID: 15714519.

56. Garavelli L,  Cerruti-Mainardi P, Virdis R,  Pedori S,  Pastore G, Godi M,  Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Longo N, Neri G, Bernasconi S (2005) Genitourinary Anomalies in Mowat-Wilson Syndrome with deletion/mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B): Report of 3 Italian  Cases  with Hypospadias and Review. Hormone Res 63(4):187-92.

57. Park HS, Jin DK, Shin SM, Jang MK, Longo N, Park JW, Bae DS, Bae YS (2005) Impaired Generation of Reactive Oxygen Species in Leprechaunism through Downregulation of Nox4. Diabetes 54(11): 3175-81.

58. Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N (2006) Metabolic changes associated with hyperammonemia in patients with propionic acidemia.  Molec Genet Metab 88(2): 123-130.

59. 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. PubMed PMID: 16652335.

60. Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA (2006) Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: A novel cause of mild methylmalonic aciduria. Molec Genet Metab 88: 327-333.

61. Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ (2006) A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet 79: 935-941.

62. 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. PubMed PMID: 17126586.

63. Calderon FR, Nelson L, Dobrowolski P, Sinitsyna 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 (online)

64. 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.

65. Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Arch EM, Longo N,  Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong L-J (2008) Clinical and Molecular Features of Mitochondrial DNA Depletion due to Mutations in Deoxyguanosine Kinase. Hum Mutat 29(2):330-1

66. 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 (2008) A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 93(4):363-70

67. 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.

68. Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N (2008) Cardiomyopathy and carnitine deficiency.  Mol Genet Metab 94(2):162-6. PubMed PMID: 18337137; PubMed Central PMCID: PMC2430214

69. Lee P, Treacy EP, Crombez E, Wasserstein M, Waber L, Wolff J, Wendel U, Dorenbaum A, Bebchuk J, Christ-Schmidt H, Seashore M, Giovannini M, Burton BK, Morris AA; Sapropterin Research Group (Clarke L, Feigenbaum A, Abadie V, Dobbelaere D, Feillet F, Hennermann J, Trefz F, Meli C, Milanowski A, Chakrapani A, Cleary M, Baker J, Bergoffen J, Grange D, Harding C, Harmatz P, Koch R, Levy H, Lipson L, Longo N, Randolph L, Vockley G, Whitley C.) (2008) Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet A 146A(22):2851-9.

70. Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB; Sapropterin Study Group. (2009) Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-blind, Placebo-controlled Study. J Pediatrics 154(5):700-7

71. Arnold GL, VanHove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D,  Fiegenbaum A (2009) A Delphi Clinical Practice Protocol for the Management of Very Long Chain Acyl-CoA Dehydrogenase Deficiency. Mol Genet Metab 96(3):85-90).

72. Botkin JR, Anderson R, Staes C, Longo N (2009) Developing a National Registry for Conditions Identifiable Through Newborn Screening. Genet Med 11(3): 176-182

73. Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M, Longo N, Pasquali M (2009) Use of Steroid Profiling by UPLC-MS/MS as a Second Tier Test in Newborn Screening for Congenital Adrenal Hyperplasia: the Utah experience. Ped Res 66(2):230-5.

74. Ardon O, Amat di San Filippo C, Salomons GS, Longo N. 2010. Creatine transporter deficiency in two half-brothers. Am J Med Genet 152A(8):1979-83.

75. Salek J, Byrne J, Box T, Longo N, Sussman N. 2010. Recurrent liver failure in a 25-year-old female.  Liver Transplantation   16:1049-1053.  

76. Kronn D, Mofidi S, Braverman N, Harris K; Diagnostics Guidelines Work Group (Adams D, Arnold G, Berry S, Brooks 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-Melia 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) . 2010. Diagnostic guidelines for newborns who screen positive in newborn screening. Genet Med. 12(12 Suppl):S251-5.

77. 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). 2010. 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.

78. Amat di San Filippo C, Ardon O, Longo N. 2011. Glycosylation of the OCTN2 carnitine transporter: Study of natural mutations identified in patients with primary carnitine deficiency. Biochim Biophys Acta 1812(3): 312-320. Epub 2010 Nov 29. PubMed PMID: 21126579; PubMed Central PMCID: PMC3026072.

79. Beaudoin DE, Longo N, Logan RA, Jones JP, Mitchell JA. 2011. Using Information Prescriptions to Refer Patients with Metabolic Conditions to the Genetics Home Reference Web Site. Journal Med Library Assoc 99(1): 70-76.

80. Viau KS, Wengreen HJ, Ernst SL, Cantor NL, Furtado LV, Longo N. 2011. Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria. J Inherit Metab Dis  34(4):963-71. PMID: 21556836

81. De Biase I, Champaigne NL, Schroer R, Pollard LM, Longo N, Wood TC. 2012. Primary carnitine deficiency presents atypically with long QT syndrome: A case report. J Inherit Metab Dis 34: 1242-1243 JIMD Rep. 2012;2:87-90. doi: 10.1007/8904_2011_52. Epub 2011 Sep 6. PubMed PMID:  23430858; PubMed Central PMCID: PMC3509843

82. Rose EC, Amat di San Filippo C, Erlingsson UCN, Ardon O, Pasquali M, Longo N. 2012. Genotype-phenotype correlation in primary carnitine deficiency. Hum Mutat 33: 118-123. doi: 10.1002/humu.21607. Epub 2011 Oct 11. PubMed PMID: 21922592; PubMed Central PMCID: PMC3240685.

83. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A,  Chiesa A, Couce Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AAM, Ramirez-Farias C, Scheweitzer-Krantz S, Silao CLT, Vela-Amieva M, Waisbren S,  Fridovich-Keil JL. 2012. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis 35(6):1037-49. PMID: 22450714

84. Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N. 2012. Glutaric acidemia type I: Outcomes before and after newborn screening. Molec Genet Metab 106 (2012) 430–438. PMID: 22728054

85. 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. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nature Genetics 2012, Oct; 44(10):1152-5. PMID: 22922874

86. Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL 2nd, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. 2012. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab. Nov:107(3):308-14. PMID: 22958974

87. Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL, Sreenath-Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. 2013. Hepatology  Jun;57(6):2171-9. doi: 10.1002/hep.26058. Epub 2013 Jan 3. PMID: 22961727

            88. Burton BK, Leviton L, Vespa H, Coon H, Longo N, Lundy BD; Johnson M, Angelino A,

Hamosh A, Bilder D. 2013.  A Diversified Approach for PKU Treatment: Routine Screening Yields High Incidence of Psychiatric Distress in Phenylketonuria Clinics. Mol Genet Metab Jan 108(1):8-12. PMID: 23266195

            89. Bilder D, Burton BK, Coon H, Leviton L, Ashworth J, Lundy B, Vespa H, Longo N. 2013. Psychiatric Symptoms in Adults with Phenylketonuria. Mol Genet Metab, Mar; 108(3):155-60. doi: 10.1016/j.ymgme.2012.12.006. PMID: 23339767

            90. Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. 2013. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol. Mar;88(3):172-8. doi: 10.1002/ajh.23383. PMID: 23339116

            91. van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS.2013. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3. PMID: 23644449

            92. Pasquali M, Longo N. Response to Chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. Hum Mutat. 2013 Apr;34(4):656. doi: 10.1002/humu.22285. PubMed PMID: 23520116.

            93. Erlingsson UCN, Iacobazzi F, Liu A, Ardon O, Pasquali M, Longo N. 2013. The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders. Biochem Biophys Res Commun Aug 9;437(4):637-41. doi: 10.1016/j.bbrc.2013.07.020. Epub 2013 Jul 16.

PMID: 23867825.

            94. Longo N, Harding CO, Burton BK, Grange DK, Vockley J, Wasserstein M, Rice GM, Dorenbaum A, Neuenburg JK, Musson DG, Gu Z, Sile S.. 2014. 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. The Lancet 2014 Apr 14. pii: S0140-6736(13)61841-3, PMID: 24743000       

            95. Viau K, Ernst SL, Pasquali M, Botto LD, Hedlund GL, Longo N. 2013. Evidence-based treatment of Guanidinoacetate Methyltransferase (GAMT) deficiency. Mol Genet Metab  Nov;110(3):255-62. doi: 10.1016/j.ymgme.2013.08.020. PMID: 24071436.

            96. Mokhtarani M, Diaz GA, Rhead W, Berry SA, Lichter-Konecki U, Feigenbaum A, Schulze A, Longo N, Bartley J, Berquisti W, Gallagher R, Smith W, McCandless S, Harding C, Rockey DC, Vierling JM, Mantry P, Ghabril P, Brown RS, Dickinson K, Moors T, Norris C, Coakley D, Milikien A, Nagamani SC, LeMons C, Lee B, Scharschmidt BF (2013) Elevated phenylacetic acid levels correlate with adverse events in healthy adults but not in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. Mol Genet Metab 2013 Dec;110(4):446-53. doi: 10.1016/j.ymgme.2013.09.017. Epub 2013 Oct 8.

PMID: 24144944.

            97. Pasquali M, Schwarz E, Jensen M, Yuzyuk T, DeBiase I, Randall H, Longo N. 2014. Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. J Inherit Metab Dis, 2014 Mar;37(2):231-6. doi: 10.1007/s10545-013-9662-7. Epub 2013 Nov 26.

PMID: 24276113

            98. 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. 2014.  Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

Mol Genet Metab. 111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7.

PMID: 24268530

            99. Ardon O, Procter M, Tvrdik T, Longo N, Mao R (2014) Sequencing Analysis of Insulin Receptor Defects and Detection of Two Novel Mutations in INSR Gene. Mol Genet Metab Reports 1 (2014) 71–84.

            100. Longo N, Siriwardena K, Feigenbaum A, Dimmock D, Burton BK, Stockler S, Waisbren S, Lang W, Jurecki E, Zhang C, Prasad S. 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. doi: 10.1038/gim.2014.109. Epub 2014 Sep 18. PMID: 25232857

            101. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL 2nd, Schulze A, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, Scharschmidt BF. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul;17(7):561-8. doi: 10.1038/gim.2014.148. Epub 2014 Dec 11. PMID: 25503497

            102. Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N (2015) Biochemical abnormalities in Pearson Syndrome. Am J Med Genet A 167(3):621-8. doi: 10.1002/ajmg.a.36939.

PMID: 25691415        

            103. De Biase I, Liu A, Yuzyuk T, Longo N, Pasquali M (2015) Quantitative amino acids analysis by liquid chromatography –tandem mass spectrometry: Implications for the diagnosis of argininosuccinic aciduria. Clin Chim Acta 2015 Mar 10;442:73-4. doi: 10.1016/j.cca.2015.01.008. Epub 2015 Jan 15. No abstract available. PMID: 25598409 

104. Longo N, Arnold GL, Pridjian G, Enns GM, Ficicioglu C, Parker S, Cohen-Pfeffer JL; Phenylketonuria Demographics, Outcomes and Safety (PKUDOS) registry. Mol Genet Metab. 2015 Apr;114(4):557-63. doi: 10.1016/j.ymgme.2015.02.003. Epub 2015 Feb 16. PMID: 25724073

105. Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM. 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. 2015 Jun 1. pii: S1096-7192(15)30017-2. doi: 10.1016/j.ymgme. 2015.05.012 PMID: 26043810

106. Lukacs V, Mathur J, Mao R, Bayrak-Toydemir P, Procter M, Cahalan SM, Kim HJ, Bandell M, Longo N, Day RW, Stevenson DA, Patapoutian A, Krock BL. 2015.  Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. Nature Commun. 2015 Sep 21;6:8329. doi: 10.1038/ncomms9329.PMID: 26387913

107. 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, Lawrence Merritt J 2nd, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. 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. doi: 10.1016/j.ymgme.2015.08.002. Epub 2015 Aug 5. PMID: 26296711

108. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF. Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan;117(1):27-32. doi: 10.1016/j.ymgme.2015.11.005. Epub 2015 Nov 11. PMID: 26586473

109. Hook D, Diaz GA, Lee B, Bartley J, Longo N, Berquist W, Le Mons C, Rudolph-Angelich I, Porter M, Scharschmidt BF, Mokhtarani M. Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate. Mol Genet Metab Rep 2016 Jan 21;6:34-40. doi: 10.1016/j.ymgmr.2015.11.002. eCollection 2016 Mar.PMID: 27014577

110. Yuzyuk T, Liu A, Thomas A, Wilson JE, De Biase I, Longo N, Pasquali M. 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 Mar 3;1017-1018:145-152. doi: 10.1016/j.jchromb.2016.02.043 PMID: 26970849

111. Frigeni M, Iacobazzi F, Yin X, Longo N. Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter. Biochim Biophys Acta 2016 Mar 16;1860(6):1334-1342. doi: 10.1016/j.bbagen.2016.03.021. PMID: 26994919

112. Thurm A, Himelstein D, DʼSouza P, Rennert O, Jiang S, Olatunji D, Longo N, Pasquali M, Swedo S, Salomons GS, Carrillo N. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. J Dev Behav Pediatr. 2016 Apr 18. [Epub ahead of print] PMID: 27096572

113. De Biase I, Viau KS, Liu A, Yuzyuk T, Botto LD, Pasquali M, Longo N. Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency. JIMD Rep. 2016 Apr 28. [Epub ahead of print] PMID: 27117294

114.  Goker-Alpan O, Longo N, McDonald M, Shankar SP, Schiffmann R, Chang P, Shen Y, Pano A. An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. Drug Des Devel Ther. 2016 May 25;10:1771-81. doi: 10.2147/DDDT.S102761. eCollection 2016. PMID: 27307708   

115. Yuzyuk T, Thomas A, Viau K, Liu A, De Biase I, Botto LD, Pasquali M, Longo N. Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy. Mol Genet Metab. 2016 Jul;118(3):167-72. doi: 10.1016/j.ymgme.2016.04.015. Epub 2016 May 8. PMID: 27324284

116. Ardon O, Procter M, Mao R, Longo N, Landau YE, Shilon-Hadass A, Gabis LV, Hoffmann C, Tzadok M, Heimer G, Sada S, Ben-Zeev B, Anikster Y. Creatine transporter deficiency: Novel mutations and functional studies. Mol Genet Metab Rep. 2016 Jun 30;8:20-3. doi: 10.1016/j.ymgmr.2016.06.005. eCollection 2016 Sep. PMID: 27408820

117. Cetinkaya A, Xiong JR, Vargel İ, Kösemehmetoğlu K, Canter Hİ, Gerdan ÖF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan Ş, Sağıroğlu MŞ, Takahashi T, Reversade B, Akarsu NA. Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. Am J Human Genet 2016  Aug 4;99(2):299-317. doi: 10.1016/j.ajhg.2016.06.008. Epub 2016 Jul 28.

PMID: 27476657

118. 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. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. PMID: 27509102