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Klaus Harzer

Showing results (11-20 of 30) with videos related to

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The Journal of Pathology|April 15, 2003
Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brainRoland Distl, Stephanie Treiber-Held, Frank Albert, et al.
Journal of Inherited Metabolic Disease|January 6, 2010
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillariesHelena Hůlková, Helena Poupetová, Klaus Harzer, et al.
Biochemical and Biophysical Research Communications|June 5, 2012
Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humansKlaus Harzer, Yotam Blech-Hermoni, Ehud Goldin, et al.
Molecular Genetics and Metabolism|May 28, 2013
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 geneMariana Q Alves, Emmanuelle Le Trionnaire, Isaura Ribeiro, et al.
Neuropediatrics|October 23, 2019
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type CJanina Gburek-Augustat, Samuel Groeschel, Jan Kern, et al.
Acta Neuropathologica Communications|December 29, 2018
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, et al.
Journal of Inherited Metabolic Disease|July 31, 2016
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvementKonstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, et al.
Experimental Hematology|September 20, 2006
In vitro analysis of multipotent mesenchymal stromal cells as potential cellular therapeutics in neurometabolic diseases in pediatric patientsIngo Müller, Birgit Kustermann-Kuhn, Christina Holzwarth, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|June 14, 2003
Gene therapy: prospects for glycolipid storage diseasesVolkmar Gieselmann, Ulrich Matzner, Diana Klein, et al.
Clinical Neuroradiology|November 23, 2020
T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic LeukodystrophyPascal Martin, Gisela E Hagberg, Thomas Schultz, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
The Journal of Pathology|April 15, 2003
Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brainRoland Distl, Stephanie Treiber-Held, Frank Albert, et al.
Journal of Inherited Metabolic Disease|January 6, 2010
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillariesHelena Hůlková, Helena Poupetová, Klaus Harzer, et al.
Biochemical and Biophysical Research Communications|June 5, 2012
Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humansKlaus Harzer, Yotam Blech-Hermoni, Ehud Goldin, et al.
Molecular Genetics and Metabolism|May 28, 2013
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 geneMariana Q Alves, Emmanuelle Le Trionnaire, Isaura Ribeiro, et al.
Neuropediatrics|October 23, 2019
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type CJanina Gburek-Augustat, Samuel Groeschel, Jan Kern, et al.
Acta Neuropathologica Communications|December 29, 2018
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, et al.
Journal of Inherited Metabolic Disease|July 31, 2016
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvementKonstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, et al.
Experimental Hematology|September 20, 2006
In vitro analysis of multipotent mesenchymal stromal cells as potential cellular therapeutics in neurometabolic diseases in pediatric patientsIngo Müller, Birgit Kustermann-Kuhn, Christina Holzwarth, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|June 14, 2003
Gene therapy: prospects for glycolipid storage diseasesVolkmar Gieselmann, Ulrich Matzner, Diana Klein, et al.
Clinical Neuroradiology|November 23, 2020
T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic LeukodystrophyPascal Martin, Gisela E Hagberg, Thomas Schultz, et al.
Pageof 3