JIMD Reports - Case and Research Reports, 2011/2

  • SSIEM

Part of the JIMD Reports book series (JIMD, volume 2)

Table of contents

  1. Front Matter
    Pages i-vii
  2. Ariadna González-del Angel, José Velázquez-Aragón, Miguel A. Alcántara-Ortigoza, Marcela Vela-Amieva, Nancy Hernández-Martínez
    Pages 1-5
  3. Ingrid van Beynum, Eva Morava, Marjan Taher, Richard J. Rodenburg, Judit Karteszi, Kalman Toth et al.
    Pages 7-10
  4. Josko Markic, Branka Polic, Radenka Kuzmanic-Samija, Eugenija Marusic, Luka Stricevic, Vitomir Metlicic et al.
    Pages 11-15
  5. Joanna Ghali, Anand Murugasu, Timothy Day, Kathy Nicholls
    Pages 17-23
  6. M. Kilic, M. Taskesen, T. Coskun, F. Gürakan, A. Tokatli, H. S. Sivri et al.
    Pages 25-28
  7. G. Deib, A. Poretti, A. Meoded, K. J. Cohen, G. V. Raymond, M. Abromowitch et al.
    Pages 29-32
  8. Anne Laure Sellier, Philippe Labrune, Theresa Kwon, Alix Mollet Boudjemline, Georges Deschènes, Vincent Gajdos
    Pages 33-36
  9. Matthias Gautschi, Mladen Pavlovic, Jean-Marc Nuoffer
    Pages 45-50
  10. Stefania Zampieri, Bruno Bembi, Natalia Rosso, Mirella Filocamo, Andrea Dardis
    Pages 59-69
  11. K. Joost, K. Õunap, R. Žordania, M.-L. Uudelepp, R. K. Olsen, K. Kall et al.
    Pages 79-85
  12. Irene De Biase, Neena Lorenzana Champaigne, Richard Schroer, Laura Malinda Pollard, Nicola Longo, Tim Wood
    Pages 87-90
  13. M L Couce, M D Bóveda, E Valerio, A Pérez-Muñuzuri, J M Fraga
    Pages 91-96
  14. Sébastien Lévesque, Marie Lambert, Aspasia Karalis, Serge Melancon, Laura Russell, Nancy Braverman
    Pages 97-102
  15. Annika Ohlsson, Claes Guthenberg, Ulrika von Döbeln
    Pages 113-117

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/10.1007/978-3-642-24758-3
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2012
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-24757-6
  • Online ISBN 978-3-642-24758-3
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book
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