| 4.2 Spezifische Therapien bei sonstigen genetischen Erkrankungen 65 R Guerrini, R Carrozzo, R Rinaldi, P Bonanni, F Guideri, M Acampa, ... Neuropädiatrie: Evidenzbasierte Therapie, 2009 | | 2009 |
| A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I N Boy, J Heringer, G Haege, EM Glahn, GF Hoffmann, SF Garbade, ... Orphanet Journal of Rare Diseases 10, 1-12, 2015 | 21 | 2015 |
| A Cross-sectional Quantitative Analysis of the Natural History of Alpha-mannosidosis M Zielonka, SF Garbade, S Kölker, GF Hoffmann, M Ries Neuropediatrics 50 (S 02), GNP-FV19, 2019 | | 2019 |
| A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features M Zielonka, SF Garbade, S Kölker, GF Hoffmann, M Ries Genetics in Medicine 20 (5), 524-530, 2018 | 31 | 2018 |
| A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease M Zielonka, S Garbade, S Kölker, GF Hoffmann, M Ries | | 2019 |
| A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder M Zielonka, SF Garbade, S Kölker, GF Hoffmann, M Ries Genetics in Medicine 21 (2), 347-352, 2019 | 22 | 2019 |
| A global Cndp1-knock-out selectively increases renal carnosine and anserine concentrations in an age-and gender-specific manner in mice T Weigand, F Colbatzky, T Pfeffer, SF Garbade, K Klingbeil, F Colbatzky, ... International journal of molecular sciences 21 (14), 4887, 2020 | 14 | 2020 |
| Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts D Haas, J Morgenthaler, F Lacbawan, B Long, H Runz, SF Garbade, ... Journal of medical genetics 44 (5), 298-305, 2007 | 29 | 2007 |
| Abstracts of the 52nd Workshop for Pediatric Research: Frankfurt, Germany 27-28 October 2016 MV Kopp, R van den Bruck, PP Weil, T Ziegenhals, P Schreiner, ... Molecular and Cellular Pediatrics 2017, 2017 | | 2017 |
| Abstracts of the 52nd Workshop for Pediatric Research: Frankfurt, Germany. 27-28 October 2016 R van den Bruck, PP Weil, T Ziegenhals, P Schreiner, S Juranek, ... Molecular and Cellular Pediatrics 4, 1-9, 2017 | | 2017 |
| Age-appropriate or delayed myelination? Scoring myelination in routine clinical MRI I Harting, SF Garbade, SD Roosendaal, H Fels-Palesandro, C Raudonat, ... European Journal of Paediatric Neurology 52, 59-66, 2024 | | 2024 |
| Age-related changes and reference values of bicaudate ratio and sagittal brainstem diameters on MRI SF Garbade, N Boy, J Heringer, S Kölker, I Harting Neuropediatrics 49 (04), 269-275, 2018 | 19 | 2018 |
| Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria SF Garbade, N Shen, N Himmelreich, D Haas, FK Trefz, GF Hoffmann, ... Genetics in Medicine 21 (3), 580-590, 2019 | 67 | 2019 |
| An Integrative Approach to Predict Phenotypic Severity in Nonketotic Hyperglycinemia O Kuseyri Hübschmann, NAJ Palacios, M Olivella, P Guder, DI Zafeiriou, ... | | |
| Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry M Keller, H Brennenstuhl, O Kuseyri Hübschmann, F Manti, ... Journal of Inherited Metabolic Disease 44 (6), 1489-1502, 2021 | 7 | 2021 |
| Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin … M Lindner, G Gramer, SF Garbade, P Burgard Journal of inherited metabolic disease 32, 514-522, 2009 | 29 | 2009 |
| Blood trimethylamine-N-oxide originates from microbiota mediated breakdown of phosphatidylcholine and absorption from small intestine W Stremmel, KV Schmidt, V Schuhmann, F Kratzer, SF Garbade, ... PLoS One 12 (1), e0170742, 2017 | 53 | 2017 |
| Brain MR patterns in inherited disorders of monoamine neurotransmitters: an analysis of 70 patients O Kuseyri Hübschmann, A Mohr, J Friedman, F Manti, G Horvath, ... Journal of Inherited Metabolic Disease 44 (4), 1070-1082, 2021 | 14 | 2021 |
| Cardiac Manifestation in Propionic Acidemia: A 30-Year Single-Center Experience A Kovacevic, S Kölker, GF Hoffmann, M Gorenflo, SF Garbade, C Staufner The Thoracic and Cardiovascular Surgeon 66 (S 02), DGPK-V165, 2018 | 1 | 2018 |
| Cardiac phenotype in propionic acidemia–results of an observational monocentric study A Kovacevic, SF Garbade, GF Hoffmann, M Gorenflo, S Kölker, C Staufner Molecular Genetics and Metabolism 130 (1), 41-48, 2020 | 19 | 2020 |
Oliver DickhäuserProfessor für Pädagogische Psychologie, Universität Mannheim在 uni-mannheim.de 的电子邮件经过验证
