Author Steinfeld, Robert
-
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