© 2014

JIMD Reports - Case and Research Reports, Volume 13

  • Johannes Zschocke
  • K. Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters

Part of the JIMD Reports book series (JIMD, volume 13)

Table of contents

  1. Front Matter
    Pages i-vi
  2. I. Sahai, C. L. Garganta, J. Bailey, P. James, H. L. Levy, M. Martin et al.
    Pages 1-14
  3. T Cloppenborg, N Janzen, HJ Wagner, U Steuerwald, M Peter, AM Das
    Pages 23-26
  4. S. Sirrs, P. Munk, P. I. Mallinson, H. Ouellette, G. Horvath, S. Cooper et al.
    Pages 27-31
  5. Özlem Ünal, Turgay Coşkun, Diclehan Orhan, Ayşegül Tokatl, Ali Dursun, Burcu Hişmi et al.
    Pages 33-36
  6. Bryce A. Mendelsohn, Neil Mehta, Bilal Hameed, Melike Pekmezci, Seymour Packman, Jeffrey Ralph
    Pages 37-41
  7. Shoichi Wakitani, Shidow Torisu, Taiki Yoshino, Kazuhisa Hattanda, Osamu Yamato, Ryuji Tasaki et al.
    Pages 43-51
  8. Felix Distelmaier, Peter Huppke, Peter Pieperhoff, Katrin Amunts, Jörg Schaper, Eva Morava et al.
    Pages 53-57
  9. Lorenza Pugni, Enrica Riva, Carlo Pietrasanta, Claudio Rabacchi, Stefano Bertolini, Cristina Pederiva et al.
    Pages 59-64
  10. Etienne M Sokal, Xavier Stéphenne, Chris Ottolenghi, Nawal Jazouli, Philippe Clapuyt, Florence Lacaille et al.
    Pages 65-72
  11. Kathryn L. Lovell, Mei Zhu, Meghan C. Drummond, Robert C. Switzer III, Karen H. Friderici
    Pages 73-81
  12. Linn Helene Stølen, Rina Lilje, Jens Veilemand Jørgensen, Yngve Thomas Bliksrud, Runar Almaas
    Pages 83-90
  13. Sarah Leuders, Eva Wolfgart, Torsten Ott, Marcel du Moulin, Agnes van Teeffelen-Heithoff, Lydia Vogelpohl et al.
    Pages 101-109
  14. Luke Chen, G. Michael Halmagyi, Michael J. Todd, Swee T. Aw
    Pages 111-118
  15. Romain Filee, Roland Schoos, François Boemer
    Pages 119-128
  16. Kathleen A. Delaney, Kyle R. Rudser, Brianna D. Yund, Chester B. Whitley, Patrick A. J. Haslett, Elsa G. Shapiro
    Pages 129-137
  17. Makoto Kamei, Karissa Kasperski, Maria Fuller, Emma J. Parkinson-Lawrence, Litsa Karageorgos, Valery Belakhov et al.
    Pages 139-147
  18. A. M. Das, K. Goedecke, U. Meyer, N. Kanzelmeyer, S. Koch, S. Illsinger et al.
    Pages 149-158

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

  • Johannes Zschocke
    • 1
  • K. Michael Gibson
    • 2
  • Garry Brown
    • 3
  • Eva Morava
    • 4
  • Verena Peters
    • 5
  1. 1.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  2. 2.Clinical Pharmacology UnitWSU Division of Health SciencesSpokaneUSA
  3. 3.Department of Biochemistry Genetics UnitUniversity of OxfordOxfordUnited Kingdom
  4. 4.Department of Pediatrics IGMDTulane University Medical CenterNew OrleansUSA
  5. 5.Center for Child and Adolescent Medicine Heidelberg University HospitalHeidelbergGermany

Bibliographic information

  • Book Title JIMD Reports - Case and Research Reports, Volume 13
  • Editors Johannes Zschocke
    K. Michael Gibson
    Garry Brown
    Eva Morava
    Verena Peters
  • Series Title JIMD Reports
  • Series Abbreviated Title JIMD Reports
  • DOI
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2014
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Softcover ISBN 978-3-642-54148-3
  • eBook ISBN 978-3-642-54149-0
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 167
  • Number of Illustrations 25 b/w illustrations, 30 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Human Physiology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals


From the book reviews:

“Clearly this is a highly specialized publication. It should be of great use to metabolic disorders specialists to keep current in the area. In addition, it is a great educational tool for medical genetics residents and genetics counseling students. … There are very few journals that deal exclusively with metabolic disorders, so this represents a unique publication. It is well planned and informative.” (Luis F. Escobar, Doody’s Book Reviews, September, 2014)