JIMD Reports - Case and Research Reports, 2011/1

Case and Research Reports

  • SSIEM

Part of the JIMD Reports book series (JIMD, volume 1)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Janice Andersen, Sverre Sandberg, Maalfrid Raaheim, Eva Gjengedal
    Pages 1-7
  3. David J. Coman, Ian M. Hayes, Veronica Collins, Margaret Sahhar, J. Ed Wraith, Martin B. Delatycki
    Pages 9-15
  4. A. Dursun, R. K. Özgül, S. Sivri, A. Tokatlı, A. Güzel, L. Mesci et al.
    Pages 17-21
  5. Silvia Galletti, Yvonne Nitschke, Anna M. Malavolti, Giulia Aquilano, Giacomo Faldella, Luigi Corvaglia et al.
    Pages 23-27
  6. Sabine Grønborg, Ralph Krätzner, Hendrik Rosewich, Jutta Gärtner
    Pages 29-36
  7. Nadia Esseghir, Chiraz Souissi Bouchlaka, Sondess Hadj Fredj, Amel Ben Chehida, Hatem Azzouz, Monique Fontaine et al.
    Pages 37-38
  8. Takahiro Kanai, Takanori Yamagata, Takane Ito, Jun Odaka, Takashi Saito, Jun Aoyagi et al.
    Pages 39-42
  9. Harri Niinikoski, Risto Lapatto, Matti Nuutinen, Laura Tanner, Olli Simell, Kirsti Näntö-Salonen
    Pages 43-47
  10. F. J. van Spronsen, A. Bélanger-Quintana
    Pages 49-55
  11. M. B. Bistué Millón, M. A. Delgado, N. B. Azar, N. Guelbert, L. Sturiale, D. Garozzo et al.
    Pages 65-72
  12. Rigoberto Gadelha Chaves, Janice Carneiro Coelho, Kristiane Michelin-Tirelli, Tibelle Freitas Maurício, Edineide de Freitas Maia Chaves, Paulo César de Almeida et al.
    Pages 73-78
  13. Teresa M. Lee, Erika S. Berman-Rosenzweig, Alfred E. Slonim, Wendy K. Chung
    Pages 79-82
  14. Waleed Brinjikji, Jerry W. Swanson, Carrie Zabel, Peter J. Dyck, Jennifer A. Tracy, Ralitza H. Gavrilova
    Pages 89-96
  15. Alix Mollet-Boudjemline, Aurélie Hubert-Buron, Catherine Boyer-Neumann, Roxana Aldea, Dominique Franco, Pascale Trioche-Eberschweiller et al.
    Pages 97-106
  16. Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, Catia Cavicchi, Amelia Morrone, Federica Ciani et al.
    Pages 107-109
  17. Ana Maria Martins, Marcelo Kerstenezky, Adriana Linares, Juan Politei, Regina Kohan, Sandra Ospina et al.
    Pages 111-115
  18. B. Pérez, P. Briones, D. Quelhas, R. Artuch, A. I. Vega, E. Quintana et al.
    Pages 117-123

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

  • SSIEM
    • 1
  1. 1.c/o ACBLondonUnited Kingdom

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-642-17708-8
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2011
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-17707-1
  • Online ISBN 978-3-642-17708-8
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book