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There are 24014 results for: content related to: Chapter 97. Enzyme Defects and the Skeleton

  1. Hypophosphatasia: dental aspects and mode of inheritance

    Journal of Clinical Periodontology

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

    Article first published online : 13 DEC 2005, DOI: 10.1111/j.1600-051X.1993.tb00705.x

  2. You have free access to this content
    “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

    Article first published online : 18 APR 2012, DOI: 10.1002/jbmr.1565

  3. 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

    Article first published online : 1 APR 2003, DOI: 10.1359/jbmr.2003.18.4.624

  4. 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

    Article first published online : 17 AUG 2015, DOI: 10.1002/jbmr.2495

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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

    Article first published online : 4 AUG 2010, DOI: 10.1002/jbmr.201

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    Enzyme replacement prevents enamel defects in hypophosphatasia mice

    Journal of Bone and Mineral Research

    Volume 27, Issue 8, August 2012, Pages: 1722–1734, Manisha C Yadav, Rodrigo Cardoso de Oliveira, Brian L Foster, Hanson Fong, Esther Cory, Sonoko Narisawa, Robert L Sah, Martha Somerman, Michael P Whyte and José Luis Millán

    Article first published online : 17 JUL 2012, DOI: 10.1002/jbmr.1619

  7. 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

    Article first published online : 14 DEC 2005, DOI: 10.1002/pd.1970151104

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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

    Article first published online : 1 SEP 2001, DOI: 10.1359/jbmr.2001.16.9.1724

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    Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

    Journal of Bone and Mineral Research

    Volume 28, Issue 2, February 2013, Pages: 419–430, Jesse E Otero, Gary S Gottesman, William H McAlister, Steven Mumm, Katherine L Madson, Tina Kiffer-Moreira, Campbell Sheen, José Luis Millán, Karen L Ericson and Michael P Whyte

    Article first published online : 15 JAN 2013, DOI: 10.1002/jbmr.1752

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

    Human Mutation

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

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

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    Tooth root dentin mineralization defects in a mouse model of hypophosphatasia

    Journal of Bone and Mineral Research

    Volume 28, Issue 2, February 2013, Pages: 271–282, BL Foster, KJ Nagatomo, HW Tso, AB Tran, FH Nociti Jr, S Narisawa, MC Yadav, MD McKee, JL Millán and MJ Somerman

    Article first published online : 15 JAN 2013, DOI: 10.1002/jbmr.1767

  12. 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

    Article first published online : 5 JUN 2005, DOI: 10.1002/ajmg.1320360105

  13. Bone-Targeted Alkaline Phosphatase

    Fusion Protein Technologies for Biopharmaceuticals: Applications and Challenges

    Stefan R. Schmidt, Pages: 429–439, 2013

    Published Online : 12 FEB 2013, DOI: 10.1002/9781118354599.ch28

  14. Hypophosphatasia: a family study involving a case diagnosed from gingival crevicular fluid

    Journal of Oral Pathology & Medicine

    Volume 21, Issue 9, October 1992, Pages: 426–431, I. L. C. Chapple, G. H. G. Thorpe, J. M. Smith, M. S. Saxby, H. D. Glenwright, A. Green, G. M. Perry, M. Grundy, L. Shaw and J. B. Matthews

    Article first published online : 28 APR 2006, DOI: 10.1111/j.1600-0714.1992.tb01033.x

  15. Phenotypically dissimilar hypophosphatasia in two sibships

    American Journal of Medical Genetics

    Volume 42, Issue 1, 1 January 1992, Pages: 117–121, J. D. Macfarlane, H. M. Kroon and J. J. van der Harten

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320420124

  16. Hypophosphatasia update: recent advances in diagnosis and treatment

    Clinical Genetics

    Volume 73, Issue 3, March 2008, Pages: 232–235, DEC Cole

    Article first published online : 8 JAN 2008, DOI: 10.1111/j.1399-0004.2007.00958.x

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    Clinical and Radiographic Findings in Adults With Persistent Hypophosphatasemia

    Journal of Bone and Mineral Research

    Volume 29, Issue 7, July 2014, Pages: 1651–1660, Fergus Eoin McKiernan, Richard L Berg and Jay Fuehrer

    Article first published online : 25 JUN 2014, DOI: 10.1002/jbmr.2178

  18. 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

    Article first published online : 16 OCT 2008, DOI: 10.1002/pd.2088

  19. Enzyme Defects and the Skeleton

    Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

    Clifford J. Rosen, Pages: 838–842, 2013

    Published Online : 19 JUL 2013, DOI: 10.1002/9781118453926.ch101

  20. Physiological role of alkaline phosphatase explored in hypophosphatasia

    Annals of the New York Academy of Sciences

    Volume 1192, Issue 1, April 2010, Pages: 190–200, Michael P. Whyte

    Article first published online : 5 APR 2010, DOI: 10.1111/j.1749-6632.2010.05387.x