| Suggested guidelines for the diagnosis and management of urea cycle disorders J Häberle, N Boddaert, A Burlina, A Chakrapani, M Dixon, M Huemer, ... Orphanet journal of rare diseases 7, 1-30, 2012 | 706 | 2012 |
| Treatment of a metabolic liver disease by in vivo genome base editing in adult mice L Villiger, HM Grisch-Chan, H Lindsay, F Ringnalda, CB Pogliano, ... Nature medicine 24 (10), 1519-1525, 2018 | 376 | 2018 |
| Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision J Häberle, A Burlina, A Chakrapani, M Dixon, D Karall, M Lindner, ... Journal of inherited metabolic disease 42 (6), 1192-1230, 2019 | 366 | 2019 |
| The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation S Kölker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015 | 258 | 2015 |
| The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ... Journal of inherited metabolic disease 38, 1059-1074, 2015 | 245 | 2015 |
| Population Dynamics of Persistent Staphylococcus aureus Isolated from the Airways of Cystic Fibrosis Patients during a 6-Year Prospective Study BC Kahl, A Duebbers, G Lubritz, J Haeberle, HG Koch, B Ritzerfeld, ... Journal of clinical microbiology 41 (9), 4424-4427, 2003 | 232 | 2003 |
| In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels T Rothgangl, MK Dennis, PJC Lin, R Oka, D Witzigmann, L Villiger, W Qi, ... Nature biotechnology 39 (8), 949-957, 2021 | 228 | 2021 |
| Congenital glutamine deficiency with glutamine synthetase mutations J Häberle, B Görg, F Rutsch, E Schmidt, A Toutain, JF Benoist, A Gelot, ... New England Journal of Medicine 353 (18), 1926-1933, 2005 | 210 | 2005 |
| Urea cycle disorders—update S Matsumoto, J Häberle, J Kido, H Mitsubuchi, F Endo, K Nakamura Journal of human genetics 64 (9), 833-847, 2019 | 159 | 2019 |
| Clinical presentation and outcome in a series of 88 patients with the cblC defect S Fischer, M Huemer, M Baumgartner, F Deodato, D Ballhausen, A Boneh, ... Journal of inherited metabolic disease 37, 831-840, 2014 | 159 | 2014 |
| Clinical practice: the management of hyperammonemia J Häberle European journal of pediatrics 170 (1), 21-34, 2011 | 148 | 2011 |
| Clinical and biochemical aspects of primary and secondary hyperammonemic disorders J Häberle Archives of biochemistry and biophysics 536 (2), 101-108, 2013 | 143 | 2013 |
| Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany S Kölker, SF Garbade, N Boy, EM Maier, T Meissner, C Mühlhausen, ... Pediatric research 62 (3), 357-363, 2007 | 128 | 2007 |
| The natural history of classic galactosemia: lessons from the GalNet registry ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ... Orphanet journal of rare diseases 14, 1-11, 2019 | 117 | 2019 |
| Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene K Engel, W Höhne, J Häberle Human mutation 30 (3), 300-307, 2009 | 114 | 2009 |
| Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency B Truong, G Allegri, XB Liu, KE Burke, X Zhu, SD Cederbaum, J Häberle, ... Proceedings of the National Academy of Sciences 116 (42), 21150-21159, 2019 | 104 | 2019 |
| Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy SH Kevelam, M Bugiani, GS Salomons, A Feigenbaum, S Blaser, ... Brain 136 (5), 1534-1543, 2013 | 98 | 2013 |
| Clinical implementation of RNA sequencing for Mendelian disease diagnostics VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ... Genome medicine 14 (1), 38, 2022 | 95 | 2022 |
| Cross-sectional observational study of 208 patients with non-classical urea cycle disorders CM Rüegger, M Lindner, D Ballhausen, MR Baumgartner, S Beblo, A Das, ... Journal of inherited metabolic disease 37, 21-30, 2014 | 93 | 2014 |
| Inborn error of amino acid synthesis: human glutamine synthetase deficiency J Häberle, B Görg, A Toutain, F Rutsch, JF Benoist, A Gelot, AL Suc, ... Journal of inherited metabolic disease 29, 352-358, 2006 | 91 | 2006 |
