| Biomarkers and algorithms for the diagnosis of vitamin B12 deficiency L Hannibal, V Lysne, AL Bjørke-Monsen, S Behringer, SC Grünert, ... Frontiers in molecular biosciences 3, 27, 2016 | 314 | 2016 |
| Recommendations for the management of tyrosinaemia type 1 C De Laet, C Dionisi-Vici, JV Leonard, P McKiernan, G Mitchell, L Monti, ... Orphanet journal of rare diseases 8, 1-9, 2013 | 260 | 2013 |
| 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 |
| 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 |
| Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening U Spiekerkoetter Journal of inherited metabolic disease 33, 527-532, 2010 | 172 | 2010 |
| Current issues regarding treatment of mitochondrial fatty acid oxidation disorders U Spiekerkoetter, J Bastin, M Gillingham, A Morris, F Wijburg, B Wilcken Journal of inherited metabolic disease 33, 555-561, 2010 | 147 | 2010 |
| Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β‐subunit mutations U Spiekerkoetter, B Sun, Z Khuchua, MJ Bennett, AW Strauss Human mutation 21 (6), 598-607, 2003 | 139 | 2003 |
| Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice S Mayorandan, U Meyer, G Gokcay, NG Segarra, HO de Baulny, ... Orphanet journal of rare diseases 9, 1-16, 2014 | 131 | 2014 |
| MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency U Spiekerkoetter, B Sun, T Zytkovicz, R Wanders, AW Strauss, U Wendel The Journal of pediatrics 143 (3), 335-342, 2003 | 123 | 2003 |
| Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment SC Stadler, R Polanetz, EM Maier, SC Heidenreich, B Niederer, ... Human mutation 27 (8), 748-759, 2006 | 111 | 2006 |
| General mitochondrial trifunctional protein (TFP) deficiency as a result of either α-or β-subunit mutations exhibits similar phenotypes because mutations in either subunit … U Spiekerkoetter, Z Khuchua, Z Yue, MJ Bennett, AW Strauss Pediatric research 55 (2), 190-196, 2004 | 105 | 2004 |
| Neurocognitive outcome in patients with hypertyrosinemia type I after long‐term treatment with NTBC E Thimm, R Richter‐Werkle, G Kamp, B Molke, D Herebian, D Klee, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2012 | 94 | 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 | 92 | 2014 |
| Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models U Spiekerkoetter, PA Wood Journal of inherited metabolic disease 33, 539-546, 2010 | 90 | 2010 |
| Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine S Primassin, F Ter Veld, E Mayatepek, U Spiekerkoetter Pediatric research 63 (6), 632-637, 2008 | 86 | 2008 |
| Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein U Spiekerkoetter, MJ Bennett, B Ben‐Zeev, AW Strauss, I Tein Muscle & Nerve: Official Journal of the American Association of …, 2004 | 86 | 2004 |
| Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14: 1-carnitine levels M Liebig, I Schymik, M Mueller, U Wendel, E Mayatepek, J Ruiter, ... Pediatrics 118 (3), 1065-1069, 2006 | 75 | 2006 |
| Changes in blood carnitine and acylcarnitine profiles of very long‐chain acyl‐CoA dehydrogenase‐deficient mice subjected to stress U Spiekerkoetter, C Tokunaga, U Wendel, E Mayatepek, V Exil, M Duran, ... European journal of clinical investigation 34 (3), 191-196, 2004 | 69 | 2004 |
| Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies SJG Hoefs, OH Skjeldal, RJ Rodenburg, B Nedregaard, ... Molecular genetics and metabolism 100 (3), 251-256, 2010 | 68 | 2010 |
| Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2 U Spiekerkoetter, G Huener, T Baykal, M Demirkol, M Duran, R Wanders, ... Journal of inherited metabolic disease 26, 613-615, 2003 | 68 | 2003 |
