JIMD Reports - Case and Research Reports, 2012/3

  • SSIEM

Part of the JIMD Reports book series (JIMD, volume 6)

Table of contents

  1. Front Matter
    Pages i-vii
  2. Sachiko Nakagawa, Jie Zhan, Wei Sun, Jose Carlos Ferreira, Steven Keiles, Tina Hambuch et al.
    Pages 1-6
  3. Monique Fontaine, Anne-Frédérique Dessein, Claire Douillard, Dries Dobbelaere, Michèle Brivet, Audrey Boutron et al.
    Pages 7-14
  4. Jessica A. Scott Schwoerer, Lisa Obernolte, Sandra Van Calcar, Susan Heighway, Heather Bankowski, Phillip Williams et al.
    Pages 15-20
  5. Hye-Sook Chang, Takako Shibata, Satoshi Arai, Chunhua Zhang, Akira Yabuki, Sawane Mitani et al.
    Pages 21-26
  6. Laura E. Laróvere, Silene M. Silvera Ruiz, Celia J. Angaroni, Raquel Dodelson de Kremer
    Pages 27-29
  7. Lorenzo Ferri, Anna Caciotti, Catia Cavicchi, Miriam Rigoldi, Rossella Parini, Marina Caserta et al.
    Pages 31-37
  8. Andrea Mignarri, Claudia Vinciguerra, Antonio Giorgio, Sacha Ferdinandusse, Hans Waterham, Ronald Wanders et al.
    Pages 43-46
  9. Sabine A. Fuchs, Martin W. Roeleveld, Leo W. J. Klomp, Ruud Berger, Tom J. de Koning
    Pages 47-53
  10. Mei-Ying Liu, Tze-Tze Liu, Yang-Ling Yang, Ying-Chen Chang, Ya-Ling Fan, Shu-Fen Lee et al.
    Pages 55-64
  11. S. L. Austin, A. D. Proia, M. J. Spencer-Manzon, J. Butany, S. B. Wechsler, P. S. Kishnani
    Pages 65-72
  12. E Martín-Hernández, P Quijada-Fraile, L Oliveros-Leal, MT García-Silva, C Pérez-Cerdá, M Baro-Fernández et al.
    Pages 73-78
  13. Xiao-Tong Shi, Juan Cai, Yuan-Yu Wang, Wen-Jun Tu, Wei-Peng Wang, Li-Ming Gong et al.
    Pages 79-83
  14. Greet Noorda, Theo van Achterberg, Truus van der Hooft, Jan Smeitink, Lisette Schoonhoven, Baziel van Engelen
    Pages 85-94
  15. Monique G. M. de Sain-van der Velden, Piero Rinaldo, Bert Elvers, Mick Henderson, John H Walter, Berthil H. C. M. T. Prinsen et al.
    Pages 95-99
  16. Judit Wittmann, Eszter Karg, Sàndor Turi, Elisa Legnini, Gyula Wittmann, Anne-Katrin Giese et al.
    Pages 117-125

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/10.1007/978-3-642-28129-7
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2012
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-28128-0
  • Online ISBN 978-3-642-28129-7
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book