| Carnitine transport and fatty acid oxidation N Longo, M Frigeni, M Pasquali Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1863 (10), 2422-2435, 2016 | 814 | 2016 |
| Disorders of carnitine transport and the carnitine cycle N Longo, C Amat di San Filippo, M Pasquali American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2006 | 642 | 2006 |
| Treatment of Fabry’s disease with the pharmacologic chaperone migalastat DP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, ... New england journal of medicine 375 (6), 545-555, 2016 | 607 | 2016 |
| Functional characterization of an EGF receptor with a truncated extracellular domain expressed in glioblastomas with EGFR gene amplification. AJ Ekstrand, N Longo, ML Hamid, JJ Olson, L Liu, VP Collins, CD James Oncogene 9 (8), 2313-2320, 1994 | 346 | 1994 |
| Phenylketonuria FJ van Spronsen, N Blau, C Harding, A Burlina, N Longo, AM Bosch Nature reviews Disease primers 7 (1), 36, 2021 | 292 | 2021 |
| Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia V Lukacs, J Mathur, R Mao, P Bayrak-Toydemir, M Procter, SM Cahalan, ... Nature communications 6 (1), 8329, 2015 | 289 | 2015 |
| Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism D Coelho, JC Kim, IR Miousse, S Fung, M du Moulin, I Buers, T Suormala, ... Nature genetics 44 (10), 1152-1155, 2012 | 265 | 2012 |
| Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency Y Wang, J Ye, V Ganapathy, N Longo Proceedings of the National Academy of Sciences 96 (5), 2356-2360, 1999 | 241 | 1999 |
| Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study FK Trefz, BK Burton, N Longo, MMP Casanova, DJ Gruskin, A Dorenbaum, ... The Journal of pediatrics 154 (5), 700-707. e1, 2009 | 234 | 2009 |
| Global analysis of plasma lipids identifies liver-derived acylcarnitines as a fuel source for brown fat thermogenesis J Simcox, G Geoghegan, JA Maschek, CL Bensard, M Pasquali, R Miao, ... Cell metabolism 26 (3), 509-522. e6, 2017 | 222 | 2017 |
| Genotype–phenotype correlation in inherited severe insulin resistance N Longo, Y Wang, SA Smith, SD Langley, LA DiMeglio, D Giannella-Neto Human Molecular Genetics 11 (12), 1465-1475, 2002 | 212 | 2002 |
| Disorders of biopterin metabolism N Longo Journal of inherited metabolic disease 32, 333-342, 2009 | 189 | 2009 |
| Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase DP Dimmock, Q Zhang, C Dionisi‐Vici, R Carrozzo, J Shieh, LY Tang, ... Human mutation 29 (2), 330-331, 2008 | 185 | 2008 |
| Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase … N Longo, CO Harding, BK Burton, DK Grange, J Vockley, M Wasserstein, ... The Lancet 384 (9937), 37-44, 2014 | 184 | 2014 |
| A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency GL Arnold, J Van Hove, D Freedenberg, A Strauss, N Longo, B Burton, ... Molecular genetics and metabolism 96 (3), 85-90, 2009 | 167 | 2009 |
| Glutaric acidemia type 1 GL Hedlund, N Longo, M Pasquali American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2006 | 165 | 2006 |
| A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome RM Toydemir, AE Brassington, P Bayrak-Toydemir, PA Krakowiak, ... The American Journal of Human Genetics 79 (5), 935-941, 2006 | 160 | 2006 |
| Phenotype and genotype in 101 males with X-linked creatine transporter deficiency JM van de Kamp, OT Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, ... Journal of medical genetics 50 (7), 463-472, 2013 | 151 | 2013 |
| Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring S Stockler-Ipsiroglu, C Van Karnebeek, N Longo, GC Korenke, ... Molecular Genetics and Metabolism 111 (1), 16-25, 2014 | 137 | 2014 |
| Disorders of creatine transport and metabolism N Longo, O Ardon, R Vanzo, E Schwartz, M Pasquali American journal of medical genetics part C: seminars in medical genetics …, 2011 | 126 | 2011 |
