| 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, 2006 | 429 | 2006 |
| 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), 130, 2014 | 231 | 2014 |
| 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 | 229 | 2009 |
| Inborn metabolic diseases JM Saudubray, G Berghe, JH Walter Springer, 2012 | 192 | 2012 |
| 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 | 173 | 2008 |
| 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 | 167 | 2016 |
| 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, 2007 | 167 | 2007 |
| 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 | 151 | 2008 |
| 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, 2012 | 148 | 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, 2009 | 148 | 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 | 142 | 2012 |
| 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 | 136 | 2009 |
| 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 | 125 | 2009 |
| Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy GF Hoffmann, B Schmitt, M Windfuhr, N Wagner, H Strehl, S Bagci, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007 | 125 | 2007 |
| Motor neuropathy in porphobilinogen deaminase–deficient mice imitates the peripheral neuropathy of human acute porphyria RLP Lindberg, R Martini, M Baumgartner, B Erne, J Borg, J Zielasek, ... The Journal of clinical investigation 103 (8), 1127-1134, 1999 | 116 | 1999 |
| The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency MR Baumgartner, S Almashanu, T Suormala, C Obie, RN Cole, ... The Journal of clinical investigation 107 (4), 495-504, 2001 | 115 | 2001 |
| 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 | 112 | 2009 |
| The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis T Suormala, MR Baumgartner, D Coelho, P Zavadakova, V Kožich, ... Journal of biological chemistry 279 (41), 42742-42749, 2004 | 109 | 2004 |
| Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ1-pyrroline-5-carboxylate … MR Baumgartner, CA Hu, S Almashanu, G Steel, C Obie, B Aral, D Rabier, ... Human molecular genetics 9 (19), 2853-2858, 2000 | 107 | 2000 |
| 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 | 103 | 2015 |
David CoelhoINSERM U954Verified email at inserm.fr
