| Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape N Himmelreich, S Ramón-Maiques, R Navarrete, N Castejon-Fernandez, ... Molecular Genetics and Metabolism, 108514, 2024 | | 2024 |
| Comparative analysis of gene and disease selection in genomic newborn screening studies IR Betzler, M Hempel, U Mütze, S Kölker, E Winkler, N Dikow, SF Garbade, ... Journal of Inherited Metabolic Disease, 2024 | | 2024 |
| Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias AT Reischl‐Hajiabadi, E Schnabel, F Gleich, K Mengler, M Lindner, ... Journal of Inherited Metabolic Disease, 2024 | | 2024 |
| Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders R Posset, SF Garbade, F Gleich, S Scharre, JG Okun, AL Gropman, ... Genetics in medicine 26 (4), 101039, 2024 | | 2024 |
| The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency NA Julia‐Palacios, O Kuseyri Hübschmann, M Olivella, R Pons, ... Journal of inherited metabolic disease, 2024 | 1 | 2024 |
| Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease N Hammann, D Lenz, I Baric, E Crushell, CD Vici, F Distelmaier, F Feillet, ... Molecular Genetics and Metabolism 141 (3), 108118, 2024 | | 2024 |
| Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders R Posset, SF Garbade, F Gleich, SCS Nagamani, AL Gropman, F Epp, ... Molecular Genetics and Metabolism 141 (3), 108112, 2024 | | 2024 |
| Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders U Mütze, A Ottenberger, F Gleich, EM Maier, M Lindner, RA Husain, ... Annals of Clinical and Translational Neurology, 2024 | | 2024 |
| Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis P Maier, S Jeyaweerasinkam, J Eberhard, L Soueidan, S Hämmerling, ... International Journal of Neonatal Screening 10 (1), 5, 2024 | 1 | 2024 |
| Psychosocial issues and coping strategies in families affected by long‐chain fatty acid oxidation disorders M Thiel, SF Garbade, S Rosenbaum‐Fabian, U Spiekerkoetter, ... JIMD reports 65 (1), 25-38, 2024 | | 2024 |
| Deep Learning and Explainable Artificial Intelligence for Improving Specificity and Detecting Metabolic Patterns in Newborn Screening E Zaunseder, U Mütze, SF Garbade, S Haupt, S Kölker, V Heuveline 2023 IEEE Symposium Series on Computational Intelligence (SSCI), 1566-1571, 2023 | | 2023 |
| Genetic landscape of pediatric acute liver failure of indeterminate origin D Lenz, LD Schlieben, M Shimura, A Bianzano, D Smirnov, R Kopajtich, ... Hepatology, 10.1097, 2023 | 4 | 2023 |
| Neurological Outcome in Screened Individuals with LCHAD/MTP Deficiency A Ottenberger, U Mütze, F Gleich, EM Maier, M Lindner, RA Husain, ... Neuropediatrics 54 (S 01), A-257, 2023 | | 2023 |
| Real-World Data on the Efficacy of Gene Replacement Therapy for Spinal Muscular Atrophy (SMA) C Weiß, LL Becker, J Friese, A Blaschek, A Hahn, S Illsinger, O Schwartz, ... Neuropediatrics 54 (S 01), A-220, 2023 | | 2023 |
| The challenge of understanding and predicting phenotypic diversity in urea cycle disorders R Posset, M Zielonka, F Gleich, SF Garbade, GF Hoffmann, S Kölker, ... Journal of Inherited Metabolic Disease 46 (6), 1007-1016, 2023 | 2 | 2023 |
| Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples EM Maier, U Mütze, N Janzen, U Steuerwald, U Nennstiel, B Odenwald, ... Journal of Inherited Metabolic Disease 46 (6), 1043-1062, 2023 | 4 | 2023 |
| Kidney urinary biomarkers in patients with branched‐chain amino acid and cobalamin metabolism defects F Köpfer, SF Garbade, K Klingbeil, B Schmidt‐Mader, JH Westhoff, ... Journal of Inherited Metabolic Disease 46 (6), 1078-1088, 2023 | | 2023 |
| Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment U Mütze, L Henze, J Schröter, F Gleich, M Lindner, SC Grünert, ... Journal of inherited metabolic disease 46 (6), 1063-1077, 2023 | 6 | 2023 |
| Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1 KM Thalwitzer, JH Driedger, J Xian, A Saffari, P Zacher, BK Bölsterli, ... Neurology 101 (9), e879-e891, 2023 | 3 | 2023 |
| Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria E Schnabel, S Kölker, F Gleich, P Feyh, F Hörster, D Haas, ... Nutrients 15 (15), 3355, 2023 | 8 | 2023 |
Oliver DickhäuserProfessor für Pädagogische Psychologie, Universität Mannheim在 uni-mannheim.de 的电子邮件经过验证
