| Regeneration of the entire human epidermis using transgenic stem cells T Hirsch, T Rothoeft, N Teig, JW Bauer, G Pellegrini, L De Rosa, ... Nature 551 (7680), 327-332, 2017 | 717 | 2017 |
| Use of guidelines improves the neurological outcome in glutaric aciduria type I J Heringer, SPN Boy, R Ensenauer, B Assmann, J Zschocke, I Harting, ... Annals of neurology 68 (5), 743-752, 2010 | 203 | 2010 |
| One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects J Meyburg, AM Das, F Hoerster, M Lindner, H Kriegbaum, G Engelmann, ... Transplantation 87 (5), 636-641, 2009 | 195 | 2009 |
| Biochemical and molecular characterization of 18 patients with pyridoxine‐dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene B Plecko, K Paul, E Paschke, S Stoeckler‐Ipsiroglu, E Struys, C Jakobs, ... Human mutation 28 (1), 19-26, 2007 | 177 | 2007 |
| Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency M Grapp, IA Just, T Linnankivi, P Wolf, T Lücke, M Häusler, J Gärtner, ... Brain 135 (7), 2022-2031, 2012 | 130 | 2012 |
| 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 | 130 | 2007 |
| CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder SB Wortmann, S Ziętkiewicz, M Kousi, R Szklarczyk, TB Haack, ... The American Journal of Human Genetics 96 (2), 245-257, 2015 | 129 | 2015 |
| Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts T Lücke, W Höppner, E Schmidt, S Illsinger, AM Das Molecular genetics and metabolism 82 (1), 93-97, 2004 | 129 | 2004 |
| Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial FJK O'Callaghan, SW Edwards, FD Alber, MC Borja, E Hancock, ... The Lancet Child & Adolescent Health 2 (10), 715-725, 2018 | 128 | 2018 |
| Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease C Lechner, M Baumann, EM Hennes, K Schanda, K Marquard, ... Journal of Neurology, Neurosurgery & Psychiatry 87 (8), 897-905, 2016 | 121 | 2016 |
| Glutaric aciduria type I: pathomechanisms of neurodegeneration K Ullrich, B Flott-Rahmel, P Schluff, U Musshoff, A Das, T Lücke, ... Journal of inherited metabolic disease 22, 392-403, 1999 | 114 | 1999 |
| MOG spectrum disorders and role of MOG-antibodies in clinical practice EM Hennes, M Baumann, C Lechner, K Rostásy Neuropediatrics 49 (01), 003-011, 2018 | 92 | 2018 |
| Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene AM Das, S Illsinger, T Lucke, H Hartmann, JPN Ruiter, U Steuerwald, ... Clinical chemistry 52 (3), 530-534, 2006 | 88 | 2006 |
| Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients M Mynarek, J Tolar, MH Albert, ML Escolar, JJ Boelens, MJ Cowan, ... Bone marrow transplantation 47 (3), 352-359, 2012 | 86 | 2012 |
| Schimke immuno-osseous dysplasia: a clinicopathological correlation JM Clewing, BC Antalfy, T Lücke, B Najafian, KM Marwedel, A Hori, ... Journal of medical genetics 44 (2), 122-130, 2007 | 84 | 2007 |
| Oligoclonal bands predict multiple sclerosis in children with optic neuritis N Heussinger, E Kontopantelis, J Gburek‐Augustat, A Jenke, G Vollrath, ... Annals of neurology 77 (6), 1076-1082, 2015 | 82 | 2015 |
| Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience L Schleede, W Bueter, S Baumgartner-Sigl, T Opladen, K Weigt-Usinger, ... Journal of child neurology 28 (3), 321-331, 2013 | 81 | 2013 |
| Impact of hippotherapy on gross motor function and quality of life in children with bilateral cerebral palsy: a randomized open-label crossover study U Deutz, N Heussen, K Weigt-Usinger, S Leiz, C Raabe, T Polster, ... Neuropediatrics 49 (03), 185-192, 2018 | 77 | 2018 |
| Developmental changes in the L-arginine/nitric oxide pathway from infancy to adulthood: plasma asymmetric dimethylarginine levels decrease with age T Lücke, N Kanzelmeyer, MJ Kemper, D Tsikas, AM Das Walter de Gruyter 45 (11), 1525-1530, 2007 | 77 | 2007 |
| AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients TS Pearson, L Gilbert, T Opladen, A Garcia‐Cazorla, M Mastrangelo, ... Journal of inherited metabolic disease 43 (5), 1121-1130, 2020 | 76 | 2020 |
