| 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 | 649 | 2014 |
| Mutations in antiquitin in individuals with pyridoxine-dependent seizures PB Mills, E Struys, C Jakobs, B Plecko, P Baxter, M Baumgartner, ... Nature medicine 12 (3), 307-309, 2006 | 569 | 2006 |
| Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 311 | 2016 |
| Recommendations on the diagnosis and management of Niemann-Pick disease type C JE Wraith, MR Baumgartner, B Bembi, A Covanis, T Levade, E Mengel, ... Molecular genetics and metabolism 98 (1-2), 152-165, 2009 | 298 | 2009 |
| Causes of and diagnostic approach to methylmalonic acidurias B Fowler, JV Leonard, MR Baumgartner Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2008 | 267 | 2008 |
| Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut−, cblA, cblB) F Hörster, MR Baumgartner, C Viardot, T Suormala, P Burgard, B Fowler, ... Pediatric research 62 (2), 225-230, 2007 | 267 | 2007 |
| 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 |
| 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 | 253 | 2012 |
| Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency M Huemer, D Diodato, B Schwahn, M Schiff, A Bandeira, JF Benoist, ... Journal of inherited metabolic disease 40, 21-48, 2017 | 252 | 2017 |
| 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 |
| 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 | 234 | 2009 |
| Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome JA Mayr, TB Haack, E Graf, FA Zimmermann, T Wieland, B Haberberger, ... The American Journal of Human Genetics 90 (2), 314-320, 2012 | 228 | 2012 |
| Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism F Rutsch, S Gailus, IR Miousse, T Suormala, C Sagné, MR Toliat, ... Nature genetics 41 (2), 234-239, 2009 | 228 | 2009 |
| Gene identification for the cblD defect of vitamin B12 metabolism D Coelho, T Suormala, M Stucki, JP Lerner-Ellis, DS Rosenblatt, ... New England Journal of Medicine 358 (14), 1454-1464, 2008 | 212 | 2008 |
| Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype–phenotype correlations JP Lerner‐Ellis, N Anastasio, J Liu, D Coelho, T Suormala, M Stucki, ... Human mutation 30 (7), 1072-1081, 2009 | 207 | 2009 |
| Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome PB Mills, SSM Camuzeaux, EJ Footitt, KA Mills, P Gissen, L Fisher, ... Brain 137 (5), 1350-1360, 2014 | 192 | 2014 |
| 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 | 181 | 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 | 174 | 2013 |
| 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 |
| The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis T Suormala, MR Baumgartner, D Coelho, P Zavadakova, V Kozich, ... Journal of Biological Chemistry 279 (41), 42742-42749, 2004 | 155 | 2004 |
David CoelhoInserm U1256Verified email at inserm.fr
