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There are 3699 results for: content related to: Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis

  1. Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications

    Human Mutation

    Volume 6, Issue 4, 1995, Pages: 288–302, Hamish S. Scott, Susanna Bunge, Andreas Gal, Lome A. Clarke, C. Phillip Morris and John J. Hopwood

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380060403

  2. You have full text access to this OnlineOpen article
    In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors

    European Journal of Biochemistry

    Volume 269, Issue 11, June 2002, Pages: 2764–2771, Paola Di Natale, Carmela Di Domenico, Guglielmo R. D. Villani, Angelo Lombardo, Antonia Follenzi and Luigi Naldini

    Article first published online : 26 MAY 2002, DOI: 10.1046/j.1432-1033.2002.02951.x

  3. You have full text access to this OnlineOpen article
    Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 965–974, Alzbeta Vazna, Clare Beesley, Linda Berna, Larisa Stolnaja, Helena Myskova, Michaela Bouckova, Hana Vlaskova, Helena Poupetova, Jiri Zeman, Martin Magner, Anna Hlavata, Bryan Winchester, Martin Hrebicek and Lenka Dvorakova

    Article first published online : 24 APR 2009, DOI: 10.1002/ajmg.a.32812

  4. Mucopolysaccharidosis type I: Characterization of novel mutations affecting α- l-iduronidase activity

    Clinical Genetics

    Volume 56, Issue 1, July 1999, Pages: 66–70, GJ Lee-Chen, SP Lin, YF Tang and YW Chin

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560109.x

  5. Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy

    Human Mutation

    Volume 24, Issue 3, September 2004, Pages: 199–207, G. Yogalingam, X.-H. Guo, V.J. Muller, D.A. Brooks, P.R. Clements, E.D. Kakkis and J.J. Hopwood

    Article first published online : 26 JUL 2004, DOI: 10.1002/humu.20081

  6. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype

    Human Mutation

    Volume 1, Issue 2, 1992, Pages: 103–108, Hamish S. Scott, Tom Litjens, John J. Hopwood and C. Phillip Morris

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380010204

  7. You have free access to this content
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

    Human Mutation

    Volume 32, Issue 6, June 2011, Pages: E2189–E2210, Francesca Bertola, Mirella Filocamo, Giorgio Casati, Matthew Mort, Camillo Rosano, Anna Tylki-Szymanska, Beyhan Tüysüz, Orazio Gabrielli, Serena Grossi, Maurizio Scarpa, Giancarlo Parenti, Daniela Antuzzi, Jaime Dalmau, Maja Di Rocco, Carlo Dionisi Vici, Ilyas Okur, Jordi Rosell, Attilio Rovelli, Francesca Furlan, Miriam Rigoldi, Andrea Biondi, David N Cooper and Rossella Parini

    Article first published online : 10 MAR 2011, DOI: 10.1002/humu.21479

  8. Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations

    Human Mutation

    Volume 3, Issue 3, 1994, Pages: 275–282, Lorne A. Clarke, Paul V. Nelson, Cara L. Warrington, C. Phillip Morris, John J. Hopwood and Hamish S. Scott

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380030316

  9. 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)

  10. Four novel mutations underlying mild or intermediate forms of α-L-iduronidase deficiency (MPS IS and MPS IH/S)

    Human Mutation

    Volume 6, Issue 1, 1995, Pages: 55–59, Phuong T. Tieu, Gideon Bach, Anna Matynia, Michael Hwang and Elizabeth F. Neufeld

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380060111

  11. α-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype

    Human Mutation

    Volume 1, Issue 4, 1992, Pages: 333–339, Hamish S. Scott, Tom Litjens, Paul V. Nelson, Doug A. Brooks, John J. Hopwood and C. Phillip Morris

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380010412

  12. Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene

    Human Mutation

    Volume 6, Issue 1, 1995, Pages: 91–94, Susanna Bunge, Wim J. Kleijer, Cordula Steglich, Michael Beck, Eberhard Schwinger and Andreas Gal

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380060119

  13. A nonpathologic allele (IW) for low α-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome

    American Journal of Medical Genetics

    Volume 28, Issue 1, September 1987, Pages: 233–243, Chester B. Whitley, Robert J. Gorlin, William Krivit, John M. Opitz and James F. Reynolds

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320280136

  14. A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH)

    Human Mutation

    Volume 3, Issue 3, 1994, Pages: 333–336, Phuong T. Tieu, Kaushiki Menon and Elizabeth F. Neufeld

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380030330

  15. You have full text access to this OnlineOpen article
    Characterization and downstream mannose phosphorylation of human recombinant α-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds

    Plant Biotechnology Journal

    Volume 11, Issue 9, December 2013, Pages: 1034–1043, Xu He, Owen Pierce, Thomas Haselhorst, Mark von Itzstein, Daniel Kolarich, Nicolle H. Packer, Tracey M. Gloster, David J. Vocadlo, Yi Qian, Doug Brooks and Allison R. Kermode

    Article first published online : 31 JUL 2013, DOI: 10.1111/pbi.12096

  16. α-l-Iduronidase forms semi-crystalline spherulites with amyloid-like properties

    Acta Crystallographica Section D

    Volume 56, Issue 4, April 2000, Pages: 524–528, Laura Ruth, David Eisenberg and Elizabeth F. Neufeld

    DOI: 10.1107/S090744490000007X

  17. You have full text access to this OnlineOpen article
    Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects

    Annals of Human Genetics

    Volume 63, Issue 1, January 1999, Pages: 9–16, N. ALIF, K. HESS, J. STRACZEK, S. SEBBAR, A. N'BOU, P. NABET and B. DOUSSET

    Article first published online : 6 MAR 2003, DOI: 10.1046/j.1469-1809.1999.6310009.x

  18. Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

    Human Mutation

    Volume 7, Issue 1, 1996, Pages: 23–29, Atsushi Yamagishi, Shunji Tomatsu, Seiji Fukuda, Atsushi Uchiyama, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Kazuko Sukegawa and Tadao Orii

    Article first published online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1996)7:1<23::AID-HUMU3>3.0.CO;2-Q

  19. Identification and characterization of -3c–g acceptor splice site mutation in human α- l-iduronidase associated with mucopolysaccharidosis type IH/S

    Clinical Genetics

    Volume 57, Issue 2, February 2000, Pages: 131–136, Yn Teng, Tr Wang, Wl Hwu, Sp Lin and Gj Lee-Chen

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.570207.x

  20. Mutation in Scheie syndrome (MPS IS): A G→A transition creates new splice site in intron 5 of one IDUA allele

    Human Mutation

    Volume 2, Issue 2, 1993, Pages: 141–144, Samuel M. Moskowitz, Phuong T. Tieu and Elizabeth F. Neufeld

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380020215