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There are 716 results for: content related to: Recognition and Diagnosis of Lysosomal Storage Diseases in the Cat and Dog

  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

    Article first published online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01379.x

  2. 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

    Article first published online : 2 AUG 2010, DOI: 10.1111/j.1939-1676.2010.0564.x

  3. Prenatal Diagnosis of Disorders of Lipid Metabolism

    Genetic Disorders and the Fetus, Sixth Edition

    Aubrey Milunsky, Jeff M. Milunsky, Pages: 445–488, 2010

    Published Online : 18 MAY 2010, DOI: 10.1002/9781444314342.ch12

  4. 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

    Article first published online : 7 OCT 2004, DOI: 10.1002/ana.410090510

  5. You have open access to this content
    Insights into post-translational processing of β-galactosidase in an animal model resembling late infantile human GM1-gangliosidosis

    Journal of Cellular and Molecular Medicine

    Volume 12, Issue 5a, September/October 2008, Pages: 1661–1671, R. Kreutzer, M. Kreutzer, M. J. Pröpsting, A. C. Sewell, T. Leeb, H. Y. Naim and W. Baumgärtner

    Article first published online : 14 DEC 2007, DOI: 10.1111/j.1582-4934.2007.00204.x

  6. Biochemical Basis of Type AB GM2 Gangliosidosis in a Japanese Spaniel

    Journal of Neurochemistry

    Volume 48, Issue 3, March 1987, Pages: 860–864, Yukitoshi Ishikawa, Su-Chen Li, Philip A. Wood and Yu-Teh Li

    Article first published online : 5 OCT 2006, DOI: 10.1111/j.1471-4159.1987.tb05596.x

  7. 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

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

  8. GM2 Gangliosidosis (B Variant) in Two Japanese Chins: Clinical, Magnetic Resonance Imaging and Pathological Characteristics

    Journal of Veterinary Internal Medicine

    Volume 27, Issue 4, July/August 2013, Pages: 771–776, A.C. Freeman, S.R. Platt, M. Vandenberg, S. Holmes, M. Kent, R. Rech, E. Howerth, S. Mishra, D.P. O'Brien and D. Wenger

    Article first published online : 3 JUN 2013, DOI: 10.1111/jvim.12118

  9. Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features

    Annals of Neurology

    Volume 9, Issue 5, May 1981, Pages: 465–475, Dr. James E. Goldman, David Katz, Isabelle Rapin, Dominick P. Purpura and Kinuko Suzuki

    Article first published online : 7 OCT 2004, DOI: 10.1002/ana.410090509

  10. 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

    Article first published online : 7 OCT 2004, DOI: 10.1002/ana.410150408

  11. Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 843–852, Katsumi Higaki, Linjing Li, Udin Bahrudin, Soichiro Okuzawa, Ayumi Takamuram, Koichi Yamamoto, Kaori Adachi1, Rubigilda C. Paraguison, Tomoko Takai, Hiroki Ikehata, Lika Tominaga, Ichiro Hisatome, Masami Iida, Seiichiro Ogawa, Junichiro Matsuda, Haruaki Ninomiya, Yasubumi Sakakibara, Kousaku Ohno, Yoshiyuki Suzuki and Eiji Nanba

    Article first published online : 27 JUN 2011, DOI: 10.1002/humu.21516

  12. Molecular genetics of GM1β-galactosidase

    Clinical Genetics

    Volume 8, Issue 5, November 1975, Pages: 303–313, John S. O'Brien

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1975.tb01507.x

  13. Hexosaminidase A deficiency in adults

    American Journal of Medical Genetics

    Volume 24, Issue 1, May 1986, Pages: 179–196, Dr. Ruth Navon, Zohar Argov, Amos Frisch, John M. Opitz and James F. Reynolds

    Article first published online : 6 JUN 2005, DOI: 10.1002/ajmg.1320240123

  14. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

    Human Mutation

    Volume 30, Issue 8, August 2009, Pages: 1214–1221, Doris Hofer, Karl Paul, Katrin Fantur, Michael Beck, Friederike Bürger, Catherine Caillaud, Ksenija Fumic, Jana Ledvinova, Agnieszka Lugowska, Helen Michelakakis, Briguita Radeva, Uma Ramaswami, Barbara Plecko and Eduard Paschke

    Article first published online : 4 APR 2009, DOI: 10.1002/humu.21031

  15. GM1 gangliosidosis in adults: Clinical and molecular analysis of 16 Japanese patients

    Annals of Neurology

    Volume 31, Issue 3, March 1992, Pages: 328–332, Dr Kunihiro Yoshida, Akihiro Oshima, Hitoshi Sakuraba, Takeshi Nakano, Nobuo Yanagisawa, Koji Inui, Shintaro Okada, Ei-ichiro Uyama, Reiko Namba, Kiyohiko Kondo, Shin-ichi Iwasaki, Kiyoshi Takamiya and Yoshiyuki Suzuki

    Article first published online : 8 OCT 2004, DOI: 10.1002/ana.410310316

  16. β -D-galactosidase activities in juvenile GM1-gangliosidosis

    Acta Neurologica Scandinavica

    Volume 58, Issue 4, October 1978, Pages: 221–229, Bjourn Hultberg and Sture Sjoublad

    Article first published online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1978.tb02882.x

  17. The genetic lysosomal diseases: Tay-Sachs disease as the prototype

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 2, Issue 3, 1996, Pages: 167–176, Kunihiko Suzuki

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2779(1996)2:3<167::AID-MRDD8>3.0.CO;2-P

  18. HEPATIC BETA GALACTOSIDASE AND FELINE GMI GANGLIOSIDOSIS

    Neuropathology and Applied Neurobiology

    Volume 7, Issue 6, November 1981, Pages: 463–476, I. C. BARNES, D. F. KELLY, C. A. PENNOCK and J. A. J. RANDELL

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1365-2990.1981.tb00246.x

  19. ULTRASTRUCTURAL FINDINGS OF RECTAL AND SKIN BIOPSIES IN ADULT GM1-GANGLIOSIDOSIS

    Pathology International

    Volume 36, Issue 12, December 1986, Pages: 1823–1831, Shu-ichi Ikeda, Masao Ushiyama, Takeshi Nakano, Takako Kikkawa, Kiyohiko Kondo and Nobuo Yanagisawa

    Article first published online : 11 DEC 2008, DOI: 10.1111/j.1440-1827.1986.tb02246.x

  20. Neuronal-Visceral GM1 Gangliosidosis in Portuguese Water Dogs

    Journal of Veterinary Internal Medicine

    Volume 3, Issue 1, January 1989, Pages: 1–7, Linda G. Shell, AI Potthoff, Anne Katherman, Geoffrey K. Saunders, Philip A. Wood, Urs Giger and Robert Carithers

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1939-1676.1989.tb00320.x