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There are 52001 results for: content related to: Enzyme Defects and the Skeleton

  1. Chapter 97. Enzyme Defects and the Skeleton

    Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

    , Pages: 454–458, 2009

    Published Online : 23 DEC 2009, DOI: 10.1002/9780470623992.ch97

  2. Infantile hypophosphatasia: Successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

    Prenatal Diagnosis

    Volume 15, Issue 11, November 1995, Pages: 1001–1006, Paula S. Henthorn and Dr Michael P. Whyte

    Version of Record online : 14 DEC 2005, DOI: 10.1002/pd.1970151104

  3. Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

    Human Mutation

    Volume 15, Issue 4, April 2000, Pages: 309–315, Etienne Mornet

    Version of Record online : 22 MAR 2000, DOI: 10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C

  4. Hypophosphatasia: dental aspects and mode of inheritance

    Journal of Clinical Periodontology

    Volume 20, Issue 9, October 1993, Pages: 615–622, I. L. C. Chapple

    Version of Record online : 13 DEC 2005, DOI: 10.1111/j.1600-051X.1993.tb00705.x

  5. You have free access to this content
    Marrow Cell Transplantation for Infantile Hypophosphatasia

    Journal of Bone and Mineral Research

    Volume 18, Issue 4, April 2003, Pages: 624–636, Michael P Whyte, Joanne Kurtzberg, William H McALISTER, Steven Mumm, Michelle N Podgornik, Stephen P Coburn, Lawrence M Ryan, Cindy R Miller, Gary S Gottesman, Alan K Smith, Judy Douville, Barbara Waters-Pick, R Douglas Armstrong and Paul L Martin

    Version of Record online : 1 APR 2003, DOI: 10.1359/jbmr.2003.18.4.624

  6. Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

    Prenatal Diagnosis

    Volume 28, Issue 11, November 2008, Pages: 993–998, Brigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, Isabelle Brun-Heath, Jean-Louis Serre, Carmen G. Armengod, Martin G. Bialer, Michèle Mathieu, Jacques Cousin, David Chitayat, Jan Liebelt, Barbara Feldman, Marion Gérard-Blanluet, Stefani Körtge-Jung, Cath King, Hannele Laivuori, Martine Le Merrer, Sarju Mehta, Christina Jern, Saba Sharif, Fabienne Prieur, Gabriele Gillessen-Kaesbach, Andreas Zankl and Etienne Mornet

    Version of Record online : 16 OCT 2008, DOI: 10.1002/pd.2088

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    Historical Vignette: Hypophosphatasia: Molecular Diagnosis of Rathbun's Original Case

    Journal of Bone and Mineral Research

    Volume 16, Issue 9, September 2001, Pages: 1724–1727, Steven Mumm, Jonathan Jones, Patrick Finnegan and Michael P. Whyte

    Version of Record online : 1 SEP 2001, DOI: 10.1359/jbmr.2001.16.9.1724

  8. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene

    Prenatal Diagnosis

    Volume 23, Issue 9, September 2003, Pages: 743–746, Hideaki Sawai, Nozomi Kanazawa, Yuki Tsukahara, Kazunori Koike, Hideo Udagawa, Koji Koyama and Etienne Mornet

    Version of Record online : 2 SEP 2003, DOI: 10.1002/pd.696

  9. Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family

    Clinical Genetics

    Volume 56, Issue 4, October 1999, Pages: 313–317, B Gehring, E Mornet, H Plath, M Hansmann, P Bartmann and Re Brenner

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560409.x

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    Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment

    Journal of Bone and Mineral Research

    Volume 30, Issue 9, September 2015, Pages: 1726–1737, Tim Cundy, Toshimi Michigami, Kanako Tachikawa, Michael Dray, John F Collins, Eleftherios P Paschalis, Sonja Gamsjaeger, Andreas Roschger, Nadja Fratzl-Zelman, Paul Roschger and Klaus Klaushofer

    Version of Record online : 17 AUG 2015, DOI: 10.1002/jbmr.2495

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    Index

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

    Peter M. Royce, Beat Steinmann, Pages: 1161–1201, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.index

  12. Mild autosomal dominant hypophosphatasia: In utero presentation in two families

    American Journal of Medical Genetics

    Volume 86, Issue 5, 29 October 1999, Pages: 410–415, Cynthia A. Moore, Cynthia J.R. Curry, Paula S. Henthorn, John A. Smith, J. Charles Smith, Patricia O'Lague, Stephen P. Coburn, David D. Weaver and Michael P. Whyte

    Version of Record online : 1 OCT 1999, DOI: 10.1002/(SICI)1096-8628(19991029)86:5<410::AID-AJMG3>3.0.CO;2-0

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    Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433[RIGHTWARDS ARROW]Cys substitution associated with severe hypophosphatasia

    The FEBS Journal

    Volume 273, Issue 24, December 2006, Pages: 5612–5624, Makiko Nasu, Masahiro Ito, Yoko Ishida, Natsuko Numa, Keiichi Komaru, Shuichi Nomura and Kimimitsu Oda

    Version of Record online : 15 NOV 2006, DOI: 10.1111/j.1742-4658.2006.05550.x

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    “Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia

    Journal of Bone and Mineral Research

    Volume 27, Issue 5, May 2012, Pages: 987–994, Roger AL Sutton, Steven Mumm, Stephen P Coburn, Karen L Ericson and Michael P Whyte

    Version of Record online : 18 APR 2012, DOI: 10.1002/jbmr.1565

  15. Fetal Skeletal Anomalies

    Clinical Obstetrics: The Fetus & Mother, Third Edition

    Luís F. Gonçalves, Patricia L. Devers, Jimmy Espinoza, Roberto Romero, Pages: 401–472, 2008

    Published Online : 14 JAN 2008, DOI: 10.1002/9780470753293.ch26

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    Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)

    Journal of Bone and Mineral Research

    Volume 26, Issue 10, October 2011, Pages: 2389–2398, Deborah Wenkert, William H McAlister, Stephen P Coburn, Janice A Zerega, Lawrence M Ryan, Karen L Ericson, Joseph H Hersh, Steven Mumm and Michael P Whyte

    Version of Record online : 21 SEP 2011, DOI: 10.1002/jbmr.454

  17. Infantile hypophosphatasia: Autosomal recessive transmission to two related sibships

    American Journal of Medical Genetics

    Volume 36, Issue 1, May 1990, Pages: 15–22, Cynthia A. Moore, Jewell C. Ward, Marian L. Rivas, H. Lynn Magill and Michael P. Whyte

    Version of Record online : 5 JUN 2005, DOI: 10.1002/ajmg.1320360105

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    Prolonged survival and phenotypic correction of Akp2/ hypophosphatasia mice by lentiviral gene therapy

    Journal of Bone and Mineral Research

    Volume 26, Issue 1, January 2011, Pages: 135–142, Seiko Yamamoto, Hideo Orimo, Tae Matsumoto, Osamu Iijima, Sonoko Narisawa, Takahide Maeda, José Luis Millán and Takashi Shimada

    Version of Record online : 4 AUG 2010, DOI: 10.1002/jbmr.201

  19. Gene therapy improves dental manifestations in hypophosphatasia model mice

    Journal of Periodontal Research

    Volume 52, Issue 3, June 2017, Pages: 471–478, R. Okawa, O. Iijima, M. Kishino, H. Okawa, S. Toyosawa, H. Sugano-Tajima, T. Shimada, T. Okada, K. Ozono, T. Ooshima and K. Nakano

    Version of Record online : 26 AUG 2016, DOI: 10.1111/jre.12412

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    Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges

    Journal of Bone and Mineral Research

    Volume 32, Issue 4, April 2017, Pages: 667–675, Michael P Whyte

    Version of Record online : 31 JAN 2017, DOI: 10.1002/jbmr.3075