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JIMD Reports - Volume 11

  • Johannes Zschocke
  • K Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters

Part of the JIMD Reports book series (JIMD, volume 11)

Table of contents

  1. Front Matter
    Pages i-vii
  2. Lance Harrington Rodan, Navin Mishra, Ivanna Yau, Andrea Andrade, Komudi Siriwardena, Ingrid Tein
    Pages 7-11
  3. Claire Searle, Brage Storstein Andresen, Ed Wraith, Jamie Higgs, Deborah Gray, Alison Mills et al.
    Pages 13-16
  4. Dina Belachew, Traci Kazmerski, Ingrid Libman, Amy C. Goldstein, Susan T. Stevens, Stephanie DeWard et al.
    Pages 17-24
  5. E. Santos Silva, M. L. Cardoso, L. Vilarinho, M. Medina, C. Barbot, E. Martins
    Pages 25-30
  6. Nancy L. Potter, Yves Nievergelt, Lawrence D. Shriberg
    Pages 31-41
  7. Sheetal Sharda, Suresh Kumar Angurana, Mandeep Walia, Savita Attri
    Pages 43-47
  8. Stepan Havranek, Ales Linhart, Zuzana Urbanova, Uma Ramaswami
    Pages 53-64
  9. Christian Möllmann, Christian G. Lampe, Wibke Müller-Forell, Maurizio Scarpa, Paul Harmatz, Manfred Schwarz et al.
    Pages 65-72
  10. Edward C. W. Leung, Aizeddin A. Mhanni, Martin Reed, Michael P. Whyte, Hal Landy, Cheryl R. Greenberg
    Pages 73-78
  11. Paul Hoff Backe, Mari Ytre-Arne, Åsmund Kjendseth Røhr, Else Brodtkorb, Brian Fowler, Helge Rootwelt et al.
    Pages 79-85
  12. M. Gavin, G. Y. Wen, J. Messing, S. Adelman, A. Logush, E. C. Jenkins et al.
    Pages 87-92
  13. Yuxin Fan, Jon Steller, Iris L. Gonzalez, Wim Kulik, Michelle Fox, Richard Chang et al.
    Pages 99-106
  14. Pauline Gaignard, Emmanuel Gonzales, Oanez Ackermann, Philippe Labrune, Isabelle Correia, Patrice Therond et al.
    Pages 117-123
  15. Nancy J. Mendelsohn, Timothy Wood, Rebecca A. Olson, Renee Temme, Susan Hale, Haoyue Zhang et al.
    Pages 125-132
  16. R. Parini, F. Furlan, A. Brambilla, D. Codazzi, S. Vedovati, C. Corbetta et al.
    Pages 133-137
  17. K. F. E. van de Loo, L. van Dongen, M. Mohamed, T. Gardeitchik, T. W. Kouwenberg, S. B. Wortmann et al.
    Pages 139-148
  18. Sally P. Stabler, Mark Korson, Reena Jethva, Robert H. Allen, Jan P. Kraus, Elaine B. Spector et al.
    Pages 149-163
  19. Yin-Hsiu Chien, Ni-Chung Lee, Mei-Chyn Chao, Li-Chu Chen, Li-Hsin Chen, Chun-Ching Chien et al.
    Pages 165-172

About this book

Introduction

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Keywords

endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

  • Johannes Zschocke
    • 1
  • K Michael Gibson
    • 2
  • Garry Brown
    • 3
  • Eva Morava
    • 4
  • Verena Peters
    • 5
  1. 1.Medizinische Universität Innsbruck Sektionen für Humangenetik und KlinischeInnsbruckAustria
  2. 2.Clinical Pharmacology UnitDivision of Health Sciences Washington State UniversitySpokaneUSA
  3. 3.Department of Biochemistry Genetics UnitUniversity of OxfordOxfordUnited Kingdom
  4. 4.Department of Pediatrics IGMDRadboud University Nijmegen Medical CenterNijmegenThe Netherlands
  5. 5.Center for Child and Adolescent Medicine Heidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-642-37328-2
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2013
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-37327-5
  • Online ISBN 978-3-642-37328-2
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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