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JIMD Reports - Case and Research Reports, 2011/3

  • SSIEM

Part of the JIMD Reports book series (JIMD, volume 3)

Table of contents

  1. Front Matter
    Pages i-vii
  2. Gloria P. Duran, A. Martinez-Aguayo, H. Poggi, M. Lagos, D. Gutierrez, P. R. Harris
    Pages 5-9
  3. M. Kilic, R. K. Özgül, T. Coşkun, D. Yücel, M. Karaca, H. S. Sivri et al.
    Pages 17-23
  4. M. Barth, V. Serre, L. Hubert, Y. Chaabouni, N. Bahi-Buisson, M. Cadoudal et al.
    Pages 25-32
  5. Joanna Ghali, Kathy Nicholls, Charles Denaro, David Sillence, Ian Chapman, Jack Goldblatt et al.
    Pages 33-43
  6. Niklas Mattsson, Henrik Zetterberg, Simona Bianconi, Nicole M. Yanjanin, Rao Fu, Jan-Eric Månsson et al.
    Pages 45-52
  7. Maciej Machaczka, Martin Paucar Arce, Malgorzata Rucinska, Takashi Yoshitake, Jan Kehr, Wojciech Jurczak et al.
    Pages 53-57
  8. Spyros P. Batzios, Dimitrios I. Zafeiriou, Euthymia Vargiami, George Karakiulakis, Eleni Papakonstantinou
    Pages 59-66
  9. C. W. Fung, G. Matthijs, L. Sturiale, D. Garozzo, K. Y. Wong, R. Wong et al.
    Pages 67-70
  10. Désirée Caselli, Rolando Cimaz, Roberta Besio, Antonio Rossi, Ersilia De Lorenzi, Raffaella Colombo et al.
    Pages 71-77
  11. Ronald Thibert, Keith Hyland, Joe Chiles, Steven Steinberg, Florian Eichler
    Pages 79-82
  12. D. D. J. Habets, N. C. Schaper, H. Rogozinski, F. J. van Spronsen, M. van Rijn, J. Bierau et al.
    Pages 83-89
  13. Kamer Tezcan, Kristal T. Louie, Yong Qu, Jorge Velasquez, Frank Zaldivar, Natalia Rioseco-Camacho et al.
    Pages 97-102
  14. Kenneth A. Myers, Melanie Reeves, Xing-Chang Wei, Aneal Khan
    Pages 103-106
  15. Toshiyuki Fukao, Shinsuke Maruyama, Toshihiro Ohura, Yuki Hasegawa, Mitsuo Toyoshima, Antti M. Haapalainen et al.
    Pages 107-115
  16. Nicky S. J. Halbach, Eric E. J. Smeets, Jörgen Bierau, Irene M. L. W. Keularts, Guy Plasqui, Peter O. O. Julu et al.
    Pages 117-124
  17. Beata Tóth, Melinda Erdős, Annamária Székely, László Ritli, Péter Bagossi, János Sümegi et al.
    Pages 125-129

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/10.1007/978-3-642-24936-5
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2012
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-24935-8
  • Online ISBN 978-3-642-24936-5
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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