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There are 13702 results for: content related to: Biochemical and Morphological Effects of Human Hepatic Alkaline Phosphatase in a Neonate with Hypophosphatasia

  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

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

  2. Heritable Forms of Rickets and Osteomalacia

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

    Peter M. Royce, Beat Steinmann, Pages: 765–787, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch18

  3. 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

  4. 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

  5. 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

  6. 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

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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

  8. Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images

    Prenatal Diagnosis

    Volume 27, Issue 3, March 2007, Pages: 222–227, M. Sinico, J. M. Levaillant, A. Vergnaud, J. R. Blondeau, F. Encha-Razavi, E. Mornet, M. Le Merrer and M. Gerard-Blanluet

    Version of Record online : 22 JAN 2007, DOI: 10.1002/pd.1648

  9. 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

  10. Perinatal hypophosphatasia: Radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene

    American Journal of Medical Genetics

    Volume 103, Issue 3, 15 October 2001, Pages: 235–240, Consolato Sergi, Etienne Mornet, Jochen Troeger and Theda Voigtlaender

    Version of Record online : 30 AUG 2001, DOI: 10.1002/ajmg.1541

  11. 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

    Version of Record online : 28 APR 2006, DOI: 10.1111/j.1600-0714.1992.tb01033.x

  12. 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

  13. Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy

    Pediatric Pulmonology

    Volume 47, Issue 9, September 2012, Pages: 917–922, Elena Rodriguez, Michael B. Bober, Lauren Davey, Arlene Zamora, Annelise B. Li Puma, Aaron Chidekel and Thomas H. Shaffer

    Version of Record online : 10 FEB 2012, DOI: 10.1002/ppul.22527

  14. Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue

    Journal of Obstetrics and Gynaecology Research

    Volume 37, Issue 10, October 2011, Pages: 1470–1473, Nobuhiro Suzumori, Etienne Mornet, Eita Mizutani, Shintaro Obayashi, Yasuhiko Ozaki and Mayumi Sugiura-Ogasawara

    Version of Record online : 12 MAY 2011, DOI: 10.1111/j.1447-0756.2011.01526.x

  15. Histologic and ultrastructural studies on the mineralization process in hypophosphatasia

    American Journal of Medical Genetics

    Volume 22, Issue 4, December 1985, Pages: 743–758, Dr. Asher Ornoy, Gerald E. Adomian, David L. Rimoin, John M. Opitz and James F. Reynolds

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320220410

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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

  17. 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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    “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

  19. Hypophosphatasia affecting the permanent dentition

    Journal of Oral Pathology & Medicine

    Volume 25, Issue 6, July 1996, Pages: 343–347, Anders Olsson, Lars Matsson, Hans K. Blomquist, Åke Larsson and Bengt Sjödin

    Version of Record online : 28 APR 2006, DOI: 10.1111/j.1600-0714.1996.tb00274.x

  20. Genetic analysis of hypophosphatasia

    Pediatrics International

    Volume 39, Issue 4, August 1997, Pages: 528–532, SEIJI SATO and NOBUTAKE MATSUO

    Version of Record online : 19 JAN 2011, DOI: 10.1111/j.1442-200X.1997.tb03632.x