|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
|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
|Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma|
CO Harding, RA Pagon
American journal of medical genetics 37 (4), 443-446, 1990
|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
|Secular evolution of hierarchical planetary systems|
MH Lee, SJ Peale
The Astrophysical Journal 592 (2), 1201, 2003
|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
|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
|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
|State-of-the-art 2003 on PKU gene therapy|
Z Ding, CO Harding, B Thöny
Molecular genetics and metabolism 81 (1), 3-8, 2004
|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
|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
|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
|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
|L-carnitine administration reduces number of episodes in cyclic vomiting syndrome|
SC Van Calcar, CO Harding, JA Wolff
Clinical pediatrics 41 (3), 171-174, 2002
|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
|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
|A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency|
GL Arnold, DD Koeberl, D Matern, B Barshop, N Braverman, B Burton, ...
Molecular genetics and metabolism 93 (4), 363-370, 2008
|Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency|
MB Gillingham, WE Connor, D Matern, P Rinaldo, T Burlingame, ...
Molecular genetics and metabolism 79 (2), 114-123, 2003
|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
|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