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There are 22894 results for: content related to: Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients

  1. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 236–246, D Hofer, K Paul, K Fantur, M Beck, A Roubergue, A Vellodi, BJ Poorthuis, H Michelakakis, B Plecko and E Paschke

    Version of Record online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01379.x

  2. The Gangliosidoses

    Lysosomal Storage Disorders: A Practical Guide

    Atul Mehta, Bryan Winchester, Pages: 63–69, 2012

    Published Online : 15 NOV 2012, DOI: 10.1002/9781118514672.ch8

  3. Disorders of Lysosomal Enzymes: Clinical Phenotypes

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Peter M. Royce, Beat Steinmann, Pages: 849–899, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch22(ii)

  4. You have free access to this content
    Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

    Human Mutation

    Volume 27, Issue 10, October 2006, Page: 1060, Raül Santamaria, Amparo Chabás, Maria Josep Coll, Clara Sa Miranda, Lluïsa Vilageliu and Daniel Grinberg

    Version of Record online : 28 AUG 2006, DOI: 10.1002/humu.9451

  5. Chronic GM1 gangliosidosis presenting as dystonia: II. Biochemical studies

    Annals of Neurology

    Volume 9, Issue 5, May 1981, Pages: 476–483, Takuro Kobayashi and Dr. Kunihiko Suzuki

    Version of Record online : 7 OCT 2004, DOI: 10.1002/ana.410090510

  6. You have full text access to this Open Access content
    GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in a Family of Toy Poodles

    Journal of Veterinary Internal Medicine

    Volume 24, Issue 5, September/October 2010, Pages: 1013–1019, S. Tamura, Y. Tamura, K. Uchida, K. Nibe, M. Nakaichi, M.A. Hossain, H.S. Chang, M.M. Rahman, A. Yabuki and O. Yamato

    Version of Record online : 2 AUG 2010, DOI: 10.1111/j.1939-1676.2010.0564.x

  7. OLIGOSACCHARIDE STORAGE IN BRAINS FROM PATIENTS WITH FUCOSIDOSIS, GM1-GANGLIOSIDOSIS AND GM2-GANGLIOSIDOSIS (SANDHOFF'S DISEASE)

    Journal of Neurochemistry

    Volume 27, Issue 3, September 1976, Pages: 733–740, Grace Chen Tsay and Glyn Dawson

    Version of Record online : 4 OCT 2006, DOI: 10.1111/j.1471-4159.1976.tb10401.x

  8. Morquio B syndrome: A primary defect in β-galactosidase

    American Journal of Medical Genetics

    Volume 16, Issue 2, October 1983, Pages: 261–275, Gijsbertus T. J. van der Horst, Wim J. Kleijer, André T. Hoogeveen, Jan G. M. Huijmans, Wim Blom and Dr. Otto P. van Diggelen

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320160215

  9. GM1 Gangliosidosis: Enzymatic variation in a single family

    Annals of Neurology

    Volume 9, Issue 3, March 1981, Pages: 232–236, Dr. Donald F. Farrell and Marian P. Macmartin

    Version of Record online : 7 OCT 2004, DOI: 10.1002/ana.410090305

  10. Adult Gmi gangliosidosis: Clinical and biochemical studies on two patients and comparison to other patients called variant or adult Gm1 gangliosidosis

    Clinical Genetics

    Volume 17, Issue 5, May 1980, Pages: 323–334, David A. Wenger, Martha Sattler, O. Thomas Mueller, Garth G. Myers, Richard S. Schneiman and G. William Nixon

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1980.tb00158.x

  11. You have free access to this content
    GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling

    Human Mutation

    Volume 28, Issue 2, February 2007, Page: 204, Anna Caciotti, Maria Alice Donati, Elena Procopio, Mirella Filocamo, Wim Kleijer, Wim Wuyts, Bettina Blaumeiser, Alessandra d'Azzo, Lisa Simi, Claudio Orlando, Fiona McKenzie, Agata Fiumara, Enrico Zammarchi and Amelia Morrone

    Version of Record online : 12 JAN 2007, DOI: 10.1002/humu.9475

  12. Increased Acetylcholine Synthesis and Release in Brains of Cats with GM1 Gangliosidosis

    Journal of Neurochemistry

    Volume 46, Issue 5, May 1986, Pages: 1567–1572, Richard S. Jope, Henry J. Baker and Donald J. Connor

    Version of Record online : 5 OCT 2006, DOI: 10.1111/j.1471-4159.1986.tb01778.x

  13. GM1 Gangliosidosis: Phenotypic variation in a single family

    Annals of Neurology

    Volume 9, Issue 3, March 1981, Pages: 225–231, Dr. Donald F. Farrell and Ute Ochs

    Version of Record online : 7 OCT 2004, DOI: 10.1002/ana.410090304

  14. You have free access to this content
    Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects

    European Journal of Biochemistry

    Volume 149, Issue 2, June 1985, Pages: 247–255, Sybille SONDERFELD, Ernst CONZELMANN, Günter SCHWARZMANN, Josef BURG, Ute HINRICHS and Konrad SANDHOFF

    Version of Record online : 3 MAR 2005, DOI: 10.1111/j.1432-1033.1985.tb08919.x

  15. β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

    Human Mutation

    Volume 15, Issue 4, April 2000, Pages: 354–366, A. Morrone, T. Bardelli, M.A. Donati, M. Giorgi, M. Di Rocco, R. Gatti, R. Parini, R. Ricci, G. Taddeucci, A. D'Azzo and E. Zammarchi

    Version of Record online : 22 MAR 2000, DOI: 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L

  16. Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis

    Human Mutation

    Volume 13, Issue 5, 1999, Pages: 401–409, Cláudia M.D. Silva, Márcia H. Severini, Andréia Sopelsa, Janice C. Coelho, Arnaldo Zaha, Alessandra d'Azzo and Roberto Giugliani

    Version of Record online : 20 MAY 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N

  17. Bone marrow transplantation in canine GM1 gangliosidosis

    Clinical Genetics

    Volume 38, Issue 4, October 1990, Pages: 274–280, John S. O'Brien, Rainer Storb, Robert F. Raff, Jane Harding, Frederick Appelbaum, Satoshi Morimoto, Yasuo Kishimoto, Ted Graham, Amelia Ahern-Rindell and Susan L. O'Brien

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1990.tb03581.x

  18. Juvenile progressive dystonia: A new phenotype of GM2 Gangliosidosis

    Annals of Neurology

    Volume 15, Issue 4, April 1984, Pages: 348–352, David Meek, Leonhard S. Wolfe, Eva Andermann and Dr. Frederick Andermann

    Version of Record online : 7 OCT 2004, DOI: 10.1002/ana.410150408

  19. Mouse Models of Human Lysosomal Diseases

    Brain Pathology

    Volume 8, Issue 1, January 1998, Pages: 195–215, Kinuko Suzuki, Richard L. Proia and Kunihiko Suzuki

    Version of Record online : 5 APR 2006, DOI: 10.1111/j.1750-3639.1998.tb00145.x

  20. Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

    Human Mutation

    Volume 25, Issue 3, March 2005, Pages: 285–292, Anna Caciotti, Maria Alice Donati, Avihu Boneh, Alessandra d'Azzo, Antonio Federico, Rossella Parini, Danielas Antuzzi, Tiziana Bardelli, Daniele Nosi, Virginia Kimonis, Enrico Zammarchi and Amelia Morrone

    Version of Record online : 15 FEB 2005, DOI: 10.1002/humu.20147