© 2012

JIMD Reports - Case and Research Reports, 2011/2


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


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.


endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

    • 1
  1. 1.c/o ACBLondonUnited Kingdom

Bibliographic information

  • Book Title JIMD Reports - Case and Research Reports, 2011/2
  • Editors SSIEM
  • Series Title JIMD Reports
  • Series Abbreviated Title JIMD Reports
  • DOI
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2012
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Softcover ISBN 978-3-642-24757-6
  • eBook ISBN 978-3-642-24758-3
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VII, 123
  • Number of Illustrations 20 b/w illustrations, 11 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Human Physiology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals


From the reviews:

“This is a collection of case reports and short research reports regarding various inborn errors of metabolism with a focus on new or unusual features, outcomes of therapy, or screening. … the book is designed for highly specialized practitioners in the field of genetics or metabolic disorders. … The book does fulfill its purpose, but the audience is … geneticists and those specializing in each of these rare disorders.” (Christine Yu, Doody’s Review Service, March, 2012)