Prof. Dr. Dr. Robert Steinfeld

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  • 2021 | Journal Article | Research Paper | 
    ​ ​High-grade extracellular vesicles preparation by combined size-exclusion and affinity chromatography​
    Bellotti, C.; Lang, K.; Kuplennik, N.; Sosnik, A. & Steinfeld, R. ​ (2021) 
    Scientific Reports, 11(1) art. 10550​.​ DOI: https://doi.org/10.1038/s41598-021-90022-y 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study​
    Märtner, E. M. C.; Maier, E. M.; Mengler, K.; Thimm, E.; Schiergens, K. A.; Marquardt, T. & Santer, R. et al.​ (2020) 
    Journal of Inherited Metabolic Disease,.​ DOI: https://doi.org/10.1002/jimd.12335 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension​
    Syrbe, S.; Stettner, G. M.; Bally, J.; Borggraefe, I.; Bien, C. I.; Ferfoglia, R. I. & Huppke, P.  et al.​ (2020) 
    Neurology, 94(22) pp. e2290​-e2301​.​ DOI: https://doi.org/10.1212/WNL.0000000000009523 
    ​Details  DOI 
  • 2019 | Journal Article | Research Paper | 
    ​ ​Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases​
    Yambire, K. F. ; Fernandez-Mosquera, L. ; Steinfeld, R. ; Mühle, C.; Ikonen, E.; Raimundo, N.   & Milošević, I. ​ (2019) 
    eLife, 8 art. e39598​.​ DOI: https://doi.org/10.7554/eLife.39598 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder​
    Varvagiannis, K.; Hanquinet, S.; Billieux, M.; De Luca, R.; Rimensberger, P.; Lidgren, M. & Guipponi, M. et al.​ (2018) 
    Neuropediatrics, 49(02) pp. 150​-153​.​ DOI: https://doi.org/10.1055/s-0037-1613681 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Potential Risks to Stable Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Children With Cerebral X-linked Adrenoleukodystrophy​
    Kühl, J.-S.; Kupper, J.; Baqué, H.; Ebell, W.; Gärtner, J. ; Korenke, C. & Spors, B. et al.​ (2018) 
    JAMA Network Open, 1(3) pp. e180769​.​ DOI: https://doi.org/10.1001/jamanetworkopen.2018.0769 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia​
    Ohlenbusch, A. ; Jung, K. ; Steinfeld, R. ; Gärtner, J.   & Kettwig, M.​ (2018) 
    Journal of Pediatric Genetics, 07(01) pp. 014​-018​.​ DOI: https://doi.org/10.1055/s-0037-1607341 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)​
    Wambach, J. A.; Stettner, G. M.; Haack, T. B.; Writzl, K.; Škofljanec, A.; Maver, A. & Munell, F. et al.​ (2017) 
    Human Mutation, 38(11) pp. 1477​-1484​.​ DOI: https://doi.org/10.1002/humu.23297 
    ​Details  DOI 

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