Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis von Sandhoff, Konrad, Harzer, Klaus

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GM2 Gangliosidosis in an Adult Pet Rabbit von Rickmeyer, T., Schöniger, S., Petermann, A., Harzer, K., Kustermann-Kuhn, B., Fuhrmann, H., Schoon, H.-A.

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Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient von Elleder, M., Jeřábková, M., Befekadu, A., Hřebíček, M., Berná, L., Ledvinová, J., Hůlková, H., Rosewich, H., Schymik, N., Paton, B. C., Harzer, K.

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Sphingolipid Activator Protein D ( sap-D) Stimulates the Lysosomal Degradation of Ceramide in Vivo von Klein, A., Henseler, M., Klein, C., Suzuki, K., Harzer, K., Sandhoff, K.

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A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate von Diggelen, O. P., Voznyi, Ya. V., Keulemans, J. L. M., Schoonderwoerd, K., Ledvinova, J., Mengel, E., Zschiesche, M., Santer, R., Harzer, K.

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A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated... von HULKOVA, H, CERVENKOVA, M, BÖÖR, A, SMID, F, ELLEDER, M, LEDVINOVA, J, TOCHACKOVA, M, HREBICEK, M, POUPETOVA, H, BEFEKADU, A, BERNA, L, PATON, B. C, HARZER, K

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Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study von Rolfs, Arndt, Böttcher, Tobias, Zschiesche, Marlies, Morris, Peter, Winchester, Bryan, Bauer, Peter, Walter, Uwe, Mix, Eilhard, Löhr, Mathias, Harzer, Klaus, Strauss, Ulf, Pahnke, Jens, Grossmann, Annette, Benecke, Reiner

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The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells von Burek, C, Roth, J, Koch, H G, Harzer, K, Los, M, Schulze-Osthoff, K

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On the role of peripheral macrophages during active experimental allergic encephalomyelitis (EAE) von IMRICH, H, HARZER, K

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Niemann-Pick Disease Type A and B are Clinically but also Enzymatically Heterogeneous: Pitfall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the Mutati... von Harzer, K., Rolfs, A., Bauer, P., Zschiesche, M., Mengel, E., Backes, J., Kustermann-Kuhn, B., Bruchelt, G., van Diggelen, O. P., Mayrhofer, H., Krägeloh-Mann, I.

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Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retrovira... von MATZNER, U, HARZER, K, LEARISH, R. D, BARRANGER, J. A, GIESELMANN, V

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Variations of the Ultrastructure of Neuronal Lipofuscin During Childhood and Adolescence in the Human Ammon's Horn von Boellaard, J. W., Harzer, K., Schlote, W.

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Hydrops fetalis : manifestation in lysosomal storage diseases including Farber disease von KATTNER, E, SCHÄFER, A, HARZER, K

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Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin von Sikora, Jakub, Harzer, Klaus, Elleder, Milan

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Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and... von Millat, Gilles, Marçais, Christophe, Tomasetto, Catherine, Chikh, Karim, Fensom, Anthony H., Harzer, Klaus, Wenger, David A., Ohno, K., Vanier, Marie T.

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Clinical findings in Niemann-Pick disease type B von Müssig, K., Harzer, K., Mayrhofer, H., Krägeloh-Mann, I., Häring, H-U., Machicao, F.

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Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene von SCHNABEL, D, SCHRODER, M, SANDHOFF, K, FÜRST, W, KLEIN, A, KURWITZ, R, ZENK, T, WEBER, J, HARZER, K, PATON, B. C, SUZUKI, K

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Acidic Sphingomyelinase Mediates Entry of N. gonorrhoeae into Nonphagocytic Cells von Grassmé, Heike, Gulbins, Erich, Brenner, Birgit, Ferlinz, Klaus, Sandhoff, Konrad, Harzer, Klaus, Lang, Florian, Meyer, Thomas F.

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Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group von SCHOFER, O, MISCHO, B, PÜSCHEL, W, HARZER, K, VANIER, M. T

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Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses von HARZER, K, PATON, B. C, POULOS, A, KUSTERMANN-KUHN, B, ROGGENDORF, W, GRISAR, T, POPP, M

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