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 | 726 | 2012 |
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia MR Baumgartner, F Hörster, C Dionisi-Vici, G Haliloglu, D Karall, ... Orphanet journal of rare diseases 9, 1-36, 2014 | 677 | 2014 |
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 | 395 | 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 | 271 | 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 | 254 | 2015 |
Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop U Spiekerkoetter, M Lindner, R Santer, M Grotzke, MR Baumgartner, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009 | 236 | 2009 |
The genetic landscape and epidemiology of phenylketonuria A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ... The American Journal of Human Genetics 107 (2), 234-250, 2020 | 226 | 2020 |
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision N Boy, C Mühlhausen, EM Maier, J Heringer, B Assmann, P Burgard, ... Journal of inherited metabolic disease 40, 75-101, 2017 | 217 | 2017 |
Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop U Spiekerkoetter, M Lindner, R Santer, M Grotzke, MR Baumgartner, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009 | 185 | 2009 |
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients SC Grünert, S Müllerleile, L De Silva, M Barth, M Walter, K Walter, ... Orphanet journal of rare diseases 8, 1-9, 2013 | 178 | 2013 |
The enigmatic role of tafazzin in cardiolipin metabolism RH Houtkooper, M Turkenburg, BT Poll-The, D Karall, C Pérez-Cerdá, ... Biochimica et Biophysica Acta (BBA)-Biomembranes 1788 (10), 2003-2014, 2009 | 177 | 2009 |
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision P Forny, F Hörster, D Ballhausen, A Chakrapani, KA Chapman, ... Journal of inherited metabolic disease 44 (3), 566-592, 2021 | 168 | 2021 |
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss M Baumann, C Giunta, B Krabichler, F Rüschendorf, N Zoppi, M Colombi, ... The American Journal of Human Genetics 90 (2), 201-216, 2012 | 167 | 2012 |
Spectrum of combined respiratory chain defects JA Mayr, TB Haack, P Freisinger, D Karall, C Makowski, J Koch, ... Journal of inherited metabolic disease 38, 629-640, 2015 | 151 | 2015 |
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy M Huemer, S Scholl-Bürgi, K Hadaya, I Kern, R Beer, K Seppi, B Fowler, ... Orphanet journal of rare diseases 9, 1-12, 2014 | 127 | 2014 |
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia D Baumgartner, S Scholl-Bürgi, JO Sass, W Sperl, U Schweigmann, ... The Journal of pediatrics 150 (2), 192-197. e1, 2007 | 120 | 2007 |
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency G Brea-Calvo, TB Haack, D Karall, A Ohtake, F Invernizzi, R Carrozzo, ... The American Journal of Human Genetics 96 (2), 309-317, 2015 | 111 | 2015 |
Natural history of vanishing white matter EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ... Annals of neurology 84 (2), 274-288, 2018 | 105 | 2018 |
Propionic acidemia: neonatal versus selective metabolic screening SC Grünert, S Müllerleile, L De Silva, M Barth, M Walter, K Walter, ... Journal of inherited metabolic disease 35, 41-49, 2012 | 103 | 2012 |
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 | 98 | 2014 |