Author Steinfeld, Robert

1 to 20 of 33 Items
  • 2005 | Conference Abstract
    ​ ​MOLECULAR MECHANISM OF DISTINCT CLN2 MUTATIONS IN LATE INFANTILE CEROID LIPOFUSCINOSIS​
    Steinfeld, R.; Isbrandt, D. & Gaertner, J. ​ (2005)
    Journal of Inherited Metabolic Disease, 28 
    Dordrecht​: Springer.
    ​Details  WoS 
  • 2005 | Conference Abstract
    ​ ​Intracellular measurement of tripeptidyl peptidase I activity with a fluorogenic substrate​
    Steinfeld, R.; Fuhrmann, J. & Gärtner, J. ​ (2005)
    FEBS Journal, 272 , Budapest, HUNGARY.
    Malden​: Wiley-blackwell Publishing, Inc.
    ​Details  WoS 
  • 2006 | Conference Abstract
    ​ ​Cathepsin D deficient neuronal ceroid lipofuscinosis: A novel neurodegenerative disease of childhood​
    Steinfeld, R.; Reinhardt, K.; Schreiber, K.; Hillebrand, M. & Gärtner, J. ​ (2006)
    Journal of Inherited Metabolic Disease, 29 
    Dordrecht​: Springer.
    ​Details  WoS 
  • 2007 | Conference Abstract
    ​ ​The CLN10 subtype of neuronal ceroid lipofuscinosis is caused by mutations in the CTSD gene and is associated with a variable age of onset​
    Steinfeld, R.; Mole, S. E.; Niezen-de Boer, R. & Gaertner, J. ​ (2007)
    Journal of Inherited Metabolic Disease, 30 
    Dordrecht​: Springer.
    ​Details  WoS 
  • 2007 | Conference Abstract
    ​ ​Molecular and clinical characterization of multiple suleatase deficiency causing mutations in the formylglycine-generating enzyme​
    Schlotawa, L.; Steinfeld, R.; von Figura, K.; Dierks, T. & Gaertner, J. ​ (2007)
    Journal of Inherited Metabolic Disease, 30 
    Dordrecht​: Springer.
    ​Details  WoS 
  • 2008 | Conference Abstract
    ​ ​HSCT in childhood-onset cerebral X-linked adrenoleukodystrophy: the updated Berlin experience​
    Kuehl, J.-S.; Strauss, G.; Weschke, B.; Koehler, W.; Hunneman, D. H.; Weddige, A. & Steinfeld, R. et al.​ (2008)
    Bone Marrow Transplantation, 41 pp. S28​-S29. ​34th Annual Meeting of the European-Group-for-Blood-and-Marrow-Transplantation/24nd Meeting of the EBMT-Nurses-Group/7th Meeting of the EBMT-Data-Management-Group​, Florence, ITALY.
    London​: Nature Publishing Group.
    ​Details  WoS 
  • 2008 | Conference Abstract
    ​ ​Hematopoietic stem cell transplantation in neurometabolic disorders (NMD): The Berlin experience​
    Kuehl, J.-S.; Strauss, G.; Weschke, B.; Nagy, M.; Hennermann, J. B.; Weddige, A. & Steinfeld, R. et al.​ (2008)
    Bone Marrow Transplantation, 42 ​6th Meeting of the EBMT Paediatric Diseases Working Party/1st Meeting of the EBMT Paediatric Nurses​, Poznan, POLAND.
    London​: Nature Publishing Group.
    ​Details  WoS 
  • 2008 | Journal Article | 
    ​ ​Severe herpes simplex virus encephalitis in a pediatric patient – the role of immunological mechanisms in diagnosis and treatment​
    Kreth, J. H.; Steinfeld, R.; Lorenzo, L.; Zhang, S.-Y.; Casanova, J.-L. & Gärtner, J. ​ (2008) 
    BMC Proceedings, 2(Suppl 1) art. P34​.​ DOI: https://doi.org/10.1186/1753-6561-2-s1-p34 
    ​Details  DOI 
  • 2009 | Conference Abstract
    ​ ​The structure of tripeptidyl peptidase I (TPP1) provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis​
    Steinfeld, R.; Pal, A.; Gruene, T.; Kraetzner, R.; Gärtner, J.   & Sheldrick, G. M.​ (2009)
    European Journal of Pediatrics, 168(3) pp. 379​-380. 
    New york​: Springer.
    ​Details  WoS 
  • 2009 | Journal Article | 
    ​ ​Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism​
    Steinfeld, R.; Grapp, M.; Kraetzner, R.; Dreha-Kulaczewski, S.; Helms, G.; Dechent, P. & Wevers, R. et al.​ (2009) 
    The American Journal of Human Genetics, 85 pp. 354​-363​.​ DOI: https://doi.org/10.1016/j.ajhg.2009.08.005. 
    ​Details  DOI 
  • 2009 | Journal Article
    ​ ​Sanfilippo Syndrome Type C: Mutation Spectrum in the Heparan Sulfate Acetyl-CoA: alpha-Glucosaminide N-Acetyltransferase (HGSNAT) Gene​
    Feldhammer, M.; Durand, S.; Mrazova, L.; Boucher, R.-M.; Laframboise, R.; Steinfeld, R. & Wraith, J. E. et al.​ (2009) 
    Human Mutation, 30(6) pp. 918​-925​.​ DOI: https://doi.org/10.1002/humu.20986 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Conference Abstract
    ​ ​A presentation of ichthyosis with severe atopy due to STS and FLG deficiency​
    Seller, N.; Bohring, A.; Hausser, I.; Steinfeld, R.; Walker, T.; Aufenvenne, K. & Metze, D. et al.​ (2010)
    JDDG Journal der Deutschen Dermatologischen Gesellschaft, 8(11) 
    Malden​: Wiley-blackwell.
    ​Details  WoS 
  • 2010 | Conference Abstract
    ​ ​STRUCTURE OF TRIPEPTIDYL-PEPTIDASE I (TPP1) PROVIDES INSIGHT INTO THE MOLECULAR BASIS OF LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS​
    Kraetzner, R.; Pal, A.; Grune, T.; Grapp, M.; Schreiber, K.; Gaertner, J.   & Sheldrick, G. M. et al.​ (2010)
    Journal of Inherited Metabolic Disease, 33 
    Dordrecht​: Springer.
    ​Details  WoS 
  • 2010 | Conference Abstract
    ​ ​CEREBRAL FOLATE TRANSPORT DEFICIENCY: A NOVEL INHERITED DISORDER OF FOLATE METABOLISM​
    Steinfeld, R.; Grapp, M.; Kraetzner, R.; Dreha-Kulaczewski, S. F.; Wevers, R. A. & Gaertner, J. ​ (2010)
    Journal of Inherited Metabolic Disease, 33 
    Dordrecht​: Springer.
    ​Details  WoS 
  • 2010 | Journal Article
    ​ ​Diagnostics and treatment of neuronal ceroid lipofuscinoses from the viewpoint of neuropediatricians​
    Steinfeld, R.​ (2010) 
    Der Ophthalmologe, 107(7) pp. 616​-620​.​ DOI: https://doi.org/10.1007/s00347-009-2109-8 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Conference Abstract
    ​ ​Identification and characterization of a novel inborn error of folate metabolism causing megaloblastic anemia, pancytopenia neurodevelopmental delay and seizures​
    Banka, S.; Blom, H. J.; Walter, J.; Aziz, M.; Urquhart, J. E.; Clouthier, C. M. & Rice, G. I. et al.​ (2011)
    British Journal of Haematology, 153 ​51st Annual Scientific Meeting of the British-Society-for-Haematology​, Brighton, ENGLAND.
    Malden​: Wiley-blackwell.
    ​Details  WoS 
  • 2011 | Conference Abstract
    ​ ​DIHYDROFOLATE REDUCTASE (DHFR) DEFICIENCY: A NOVEL INBORN ERROR OF METABOLISM RESULTING IN HAEMATOLOGICAL AND NEUROLOGICAL DEFECTS IN THREE CHILDREN FROM TWO FAMILIES​
    Banka, S.; Blom, H. J.; Walter, J.; Aziz, M.; Urquhart, J. E.; Clouthier, C. M. & Rice, G. I. et al.​ (2011)
    Journal of Inherited Metabolic Disease, 34 
    Dordrecht​: Springer.
    ​Details  WoS 
  • 2011 | Conference Abstract
    ​ ​THE EXTENDED CLINICAL SPECTRUM OF CEREBRAL FOLATE TRANSPORT DEFICIENCY​
    Steinfeld, R.; Grapp, M.; Kraetzner, R. & Gärtner, J. ​ (2011)
    Journal of Inherited Metabolic Disease, 34 
    Dordrecht​: Springer.
    ​Details  WoS 
  • 2011 | Journal Article
    ​ ​Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency​
    Banka, S.; Blom, H. J.; Walter, J.; Aziz, M.; Urquhart, J. E.; Clouthier, C. M. & Rice, G. I. et al.​ (2011) 
    The American Journal of Human Genetics, 88(2) pp. 216​-225​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.01.004 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | 
    ​ ​Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course​
    Groeschel, S.; Kehrer, C.; Engel, C.; Dali, C. I.; Bley, A.; Steinfeld, R. & Grodd, W. et al.​ (2011) 
    Journal of Inherited Metabolic Disease, 34(5) pp. 1095​-1102​.​ DOI: https://doi.org/10.1007/s10545-011-9361-1 
    ​Details  DOI  PMID  PMC  WoS 

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