Author Steinfeld, Robert

• 2011 | Journal Article
  ​ ​Cerebral folate deficiency: A neurometabolic syndrome?​
  Mangold, S.; Blau, N.; Opladen, T.; Steinfeld, R.; Wessling, B.; Zerres, K. & Haeusler, M.​ (2011) 
  Molecular Genetics and Metabolism, 104(3) pp. 369​-372​.​ DOI: https://doi.org/10.1016/j.ymgme.2011.06.004 
  ​Details  DOI  PMID  PMC  WoS 

• 2012 | Conference Abstract
  ​ ​MOLECULAR CHARACTERIZATION OF FOLATE RECEPTOR 1 MUTATIONS REVEAL PHENOTYPIC VARIATIONS OF CEREBRAL FOLATE TRANSPORT DEFICIENCY​
  Steinfeld, R.; Grapp, M. & Gaertner, J. ​ (2012)
  Journal of Inherited Metabolic Disease, 35 
  Dordrecht​: Springer.
  ​Details  WoS 

• 2012 | Journal Article
  ​ ​Lysosome-Mediated Apoptosis is Associated with Cathepsin D-Specific Processing of Bid at Phe24,Trp48, and Phe183​
  Appelqvist, H.; Johansson, A.-C.; Linderoth, E.; Johansson, U.; Antonsson, B.; Steinfeld, R. & Kagedal, K. et al.​ (2012) 
  ANNALS OF CLINICAL AND LABORATORY SCIENCE, 42(3) pp. 231​-242​.​
  ​Details  PMID  PMC  WoS 

• 2012 | Journal Article
  ​ ​Mutation analysis in 54 propionic acidemia patients​
  Kraus, J. P.; Spector, E.; Venezia, S.; Estes, P.; Chiang, P. W.; Creadon-Swindell, G. & Muellerleile, S. et al.​ (2012) 
  Journal of Inherited Metabolic Disease, 35(1) pp. 51​-63​.​ DOI: https://doi.org/10.1007/s10545-011-9399-0 
  ​Details  DOI  PMID  PMC  WoS 

• 2012 | Journal Article
  ​ ​Propionic acidemia: neonatal versus selective metabolic screening​
  Gruenert, S. C.; Muellerleile, S.; de Silva, L.; Barth, M.; Walter, M.; Walter, K. & Meissner, T. et al.​ (2012) 
  Journal of Inherited Metabolic Disease, 35(1) pp. 41​-49​.​ DOI: https://doi.org/10.1007/s10545-011-9419-0 
  ​Details  DOI  PMID  PMC  WoS 

• 2013 | Journal Article | 
  ​ ​Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients​
  Gruenert, S. C.; Muellerleile, S.; De Silva, L.; Barth, M.; Walter, M.; Walter, K. & Meissner, T. et al.​ (2013) 
  Orphanet Journal of Rare Diseases, 8 art. 6​.​ DOI: https://doi.org/10.1186/1750-1172-8-6 
  ​Details  DOI  PMID  PMC  WoS 

• 2014 | Journal Article | 
  ​ ​Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort​
  Kehrer, C.; Groeschel, S.; Kustermann-Kuhn, B.; Buerger, F.; Koehler, W.; Kohlschuetter, A. & Bley, A. et al.​ (2014) 
  Orphanet Journal of Rare Diseases, 9 art. 18​.​ DOI: https://doi.org/10.1186/1750-1172-9-18 
  ​Details  DOI  PMID  PMC  WoS 

• 2014 | Journal Article | 
  ​ ​Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking​
  Stockler, S.; Corvera, S.; Lambright, D.; Fogarty, K.; Nosova, E.; Leonard, D. & Steinfeld, R. et al.​ (2014) 
  Orphanet Journal of Rare Diseases, 9 art. 141​.​ DOI: https://doi.org/10.1186/s13023-014-0141-5 
  ​Details  DOI  PMID  PMC  WoS 

• 2015 | Journal Article
  ​ ​Reversible Pancytopenia and Immunodeficiency in a Patient With Hereditary Folate Malabsorption​
  Erlacher, M.; Gruenert, S. C.; Cseh, A.; Steinfeld, R.; Salzer, U.; Lausch, E. & Nosswitz, U. et al.​ (2015) 
  Pediatric Blood & Cancer, 62(6) pp. 1091​-1094​.​ DOI: https://doi.org/10.1002/pbc.25364 
  ​Details  DOI  PMID  PMC  WoS 

• 2016 | Conference Abstract
  ​ ​NEUROMETABOLIC DISORDERS: POTENTIALLY TREATABLE ABNORMALITIES IN PATIENTS WITH TREATMENT REFRACTORY DEPRESSION AND SUICIDAL BEHAVIOR​
  Pan, L. A.; Zimmer, T.; Martin, P.; Segreti, A.; Kassiff, S.; McKain, B. W. & Baca, C. A. et al.​ (2016)
  Molecular Genetics and Metabolism, 117(3) ​39th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD)​, Ponte Vedra Beach, FL.
  San diego​: Academic Press Inc Elsevier Science.
  ​Details  WoS 

• 2017 | Journal Article
  ​ ​Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior​
  Pan, L. A.; Martin, P.; Zimmer, T.; Segreti, A. M.; Kassiff, S.; McKain, B. W. & Baca, C. A. et al.​ (2017) 
  American Journal of Psychiatry, 174(1) pp. 42​-50​.​ DOI: https://doi.org/10.1176/appi.ajp.2016.15111500 
  ​Details  DOI  PMID  PMC  WoS 

• 2022 | Journal Article | Research Paper
  ​ ​Cln5 represents a new type of cysteine-based S -depalmitoylase linked to neurodegeneration​
  Luebben, A. V.; Bender, D.; Becker, S.; Crowther, L. M.; Erven, I.; Hofmann, K. & Söding, J.  et al.​ (2022) 
  Science Advances, 8(15).​ DOI: https://doi.org/10.1126/sciadv.abj8633 
  ​Details  DOI  PMID  PMC 

• 2024 | Journal Article
  ​ ​Folate receptor α deficiency - Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approach​
  Dreha-Kulaczewski, S.; Sahoo, P.; Preusse, M.; Gkalimani, I.; Dechent, P.; Helms, G. & Hofer, S. et al.​ (2024) 
  Journal of Inherited Metabolic Disease,.​ DOI: https://doi.org/10.1002/jimd.12713 
  ​Details  DOI  PMID  PMC 

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