Author Steinfeld, Robert

1 to 33 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.
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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.
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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.
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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.
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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.
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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.
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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.
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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
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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.
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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.
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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
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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.
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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.
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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.
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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
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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.
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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.
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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.
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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
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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
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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
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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.
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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.
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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
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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
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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
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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
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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
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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
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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.
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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
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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
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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
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