检索结果 - M. Elleder

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  1. 1
    The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

    The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations 由 Helena Poupětová, J. Ledvinová, Linda Berná, Lenka Dvořáková, Viktor Kožich, M. Elleder

    出版 2010
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  2. 2
    Sleep Disturbances and Hypocretin Deficiency in Niemann-Pick Disease Type C

    Sleep Disturbances and Hypocretin Deficiency in Niemann-Pick Disease Type C 由 Jitka Vaňková, I I Stepanova, Robert Jech, M. Elleder, Lig Ling, Emmanuel Mignot, Seiji Nishino, Soňa Nevšímalová

    出版 2003
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  3. 3
    Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

    Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group 由 Gilles Millat, Karim Chikh, Saule Naureckiene, David E. Sleat, Anthony H. Fensom, Katsumi Higaki, M. Elleder, Peter Lobel, Marie T. Vanier

    出版 2001
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  4. 4
    Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

    Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis 由 Maria Kousi, Eija Siintola, Lenka Dvořáková, Hana Vlášková, Julie Turnbull, Meral Topçu, Deniz Yüksel, Sarenur Gökben, Berge A. Minassian, M. Elleder, Sara Mole, Anna-Elina Lehesjoki

    出版 2009
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  5. 5
    Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment

    Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment 由 Kenneth N. Maclean, Jakub Sikora, Viktor Kožich, Hua Jiang, Lori S. Greiner, Eva Kraus, Jakub Krijt, Linda S. Crnic, Robert H. Allen, Sally P. Stabler, M. Elleder, Jan P. Kraus

    出版 2010
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  6. 6
    Prosaposin deficiency and saposin B deficiency (activator‐deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations

    Prosaposin deficiency and saposin B deficiency (activator‐deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying... 由 Ladislav Kuchař, J. Ledvinová, Martin Hřebı́ček, Helena Myšková, Lenka Dvořáková, Linda Berná, Petr Chrastina, Befekadu Asfaw, M. Elleder, Margret Petermöller, Heidi Mayrhofer, Martin Staudt, Ingeborg Krägeloh‐Mann, Barbara C. Paton, K. Harzer

    出版 2009
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  7. 7
    Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

    Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome 由 Petr Vyleťal, Martina Kublová, Marie Hubálek Kalbáčová, Kateřina Hodaňová, Veronika Barešová, Blanka Stibůrková, Jakub Sikora, Helena Hůlková, J Živný, Jacek Majewski, Anne Simmonds, J. P. Fryns, Gopalakrishnan Venkat‐Raman, M. Elleder, Stanislav Kmoch

    出版 2006
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  8. 8
    Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

    Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis 由 Azita Sharifi, Maria Kousi, Corinne Sagné, Gian Carlo Bellenchi, Lydie Morel, Michèle Darmon, Helena Hůlková, Raquel Ruivo, Cécile Debacker, Salah El Mestikawy, M. Elleder, Anna‐Elina Lehesjoki, Anu Jalanko, Bruno Gasnier, Aija Kyttälä

    出版 2010
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  9. 9
    Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

    Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis 由 Lenka Nosková, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Veronika Barešová, Robert Ivánek, Helena Hůlková, Helena Jahnová, Julie van der Zee, John F. Staropoli, Katherine B. Sims, Jaana Tyynelä, Christine Van Broeckhoven, Peter C.G. Nijssen, Sara Mole, M. Elleder, Stanislav Kmoch

    出版 2011
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  10. 10
    A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment

    A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine... 由 Kenneth N. Maclean, Jakub Sikora, Viktor Kožich, Hua Jiang, Lori S. Greiner, Eva Kraus, Jakub Krijt, Katherine H. Overdier, Renata Collard, Gary Brodsky, Lynne Meltesen, Linda S. Crnic, Robert H. Allen, Sally P. Stabler, M. Elleder, Rima Rozen, David Patterson, Jan P. Kraus

    出版 2010
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  11. 11
    Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

    Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure 由 Martina Živná, Helena Hůlková, Marie Matignon, Kateřina Hodaňová, Petr Vyleťal, Marie Hubálek Kalbáčová, Veronika Barešová, Jakub Sikora, Hana Blažková, J Živný, Robert Ivánek, Viktor Stránecký, Jana Sovová, Kathleen Claes, Evelyne Lerut, Jean‐Pierre Fryns, P. Suzanne Hart, Thomas C. Hart, Jeremy N. Adams, Audrey Pawtowski, Maud Clemessy, Jean-Marie Gasc, Marie‐Claire Gubler, Corinne Antignac, M. Elleder, Katja Kapp, Philippe Grimbert, Anthony J. Bleyer, Stanislav Kmoch

    出版 2009
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  12. 12
    Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

    Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis 由 Eugene D. Carstea, Jill A. Morris, Katherine Coleman, Stacie K. Loftus, Dana Zhang, Christiano Cummings, Jessie Gu, Melissa A. Rosenfeld, William J. Pavan, David B. Krizman, James W. Nagle, Mihail H. Polymeropoulos, Stephen L. Sturley, Yiannis A. Ioannou, Maureen E. Higgins, Marcella Comly, Adele Cooney, Anthony Brown, Christine R. Kaneski, E. Joan Blanchette‐Mackie, Nancy K. Dwyer, Edward B. Neufeld, Ta‐Yuan Chang, Laura Liscum, Jerome F. Strauss, Kousaku Ohno, Marsha Zeigler, Rivka Carmi, Jacob Sokol, David Markie, Raymond O’Neill, O. P. van Diggelen, M. Elleder, Marc C. Patterson, Roscoe O. Brady, Marie T. Vanier, Peter G. Pentchev, Danilo A. Tagle

    出版 1997
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