| Phenylketonuria Scientific Review Conference: state of the science and future research needs KM Camp, MA Parisi, PB Acosta, GT Berry, DA Bilder, N Blau, ... Molecular genetics and metabolism 112 (2), 87-122, 2014 | 302 | 2014 |
| Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency H Antonicka, SC Leary, GH Guercin, JN Agar, R Horvath, NG Kennaway, ... Human molecular genetics 12 (20), 2693-2702, 2003 | 301 | 2003 |
| Phenylketonuria FJ van Spronsen, N Blau, C Harding, A Burlina, N Longo, AM Bosch Nature reviews Disease primers 7 (1), 36, 2021 | 252 | 2021 |
| Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma CO Harding, RA Pagon American journal of medical genetics 37 (4), 443-446, 1990 | 230 | 1990 |
| Age-related accumulation of somatic mitochondrial DNA mutations in adult-derived human iPSCs E Kang, X Wang, R Tippner-Hedges, H Ma, CDL Folmes, NM Gutierrez, ... Cell stem cell 18 (5), 625-636, 2016 | 227 | 2016 |
| The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R‐tetrahydrobiopterin): a … BK Burton, DK Grange, A Milanowski, G Vockley, F Feillet, EA Crombez, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007 | 219 | 2007 |
| 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 | 166 | 2009 |
| Pegvaliase for the treatment of phenylketonuria: results of a long-term phase 3 clinical trial program (PRISM) J Thomas, H Levy, S Amato, J Vockley, R Zori, D Dimmock, CO Harding, ... Molecular genetics and metabolism 124 (1), 27-38, 2018 | 165 | 2018 |
| Intracerebral accumulation of glutaric and 3‐hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for … SW Sauer, JG Okun, G Fricker, A Mahringer, I Müller, LR Crnic, ... Journal of neurochemistry 97 (3), 899-910, 2006 | 165 | 2006 |
| Long‐term survival in typical thanatophoric dysplasia type 1 KM Baker, DS Olson, CO Harding, RM Pauli American journal of medical genetics 70 (4), 427-436, 1997 | 139 | 1997 |
| State-of-the-art 2003 on PKU gene therapy Z Ding, CO Harding, B Thöny Molecular genetics and metabolism 81 (1), 3-8, 2004 | 132 | 2004 |
| Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate GA Diaz, LS Krivitzky, M Mokhtarani, W Rhead, J Bartley, A Feigenbaum, ... Hepatology 57 (6), 2171-2179, 2013 | 121 | 2013 |
| Up to date knowledge on different treatment strategies for phenylketonuria A Bélanger-Quintana, A Burlina, CO Harding, AC Muntau Molecular genetics and metabolism 104, S19-S25, 2011 | 117 | 2011 |
| Triheptanoin versus trioctanoin for long‐chain fatty acid oxidation disorders: a double blinded, randomized controlled trial MB Gillingham, SB Heitner, J Martin, S Rose, A Goldstein, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2017 | 104 | 2017 |
| Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria CO Harding, MB Gillingham, K Hamman, H Clark, E Goebel-Daghighi, ... Gene therapy 13 (5), 457-462, 2006 | 102 | 2006 |
| Dietary management of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD). A case report and survey M Gillingham, S Van Calcar, D Ney, J Wolff, C Harding Journal of inherited metabolic disease 22 (2), 123-131, 1999 | 99 | 1999 |
| Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional … MB Gillingham, B Scott, D Elliott, CO Harding Molecular genetics and metabolism 89 (1-2), 58-63, 2006 | 98 | 2006 |
| Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium J Seminara, M Tuchman, L Krivitzky, J Krischer, HS Lee, C LeMons, ... Molecular genetics and metabolism 100, S97-S105, 2010 | 96 | 2010 |
| Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice J Gao, J Chen, I De Domenico, DM Koeller, CO Harding, RE Fleming, ... Blood, The Journal of the American Society of Hematology 115 (16), 3374-3381, 2010 | 95 | 2010 |
