© 2014

JIMD Reports Volume 16

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

Part of the JIMD Reports book series (JIMD, volume 16)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Saskia B. Wortmann, Leo A. J. Kluijtmans, Silvia Sequeira, Ron A. Wevers, Eva Morava
    Pages 1-6
  3. Politei Juan, Amartino Hernan, Schenone Andrea Beatriz, Cabrera Gustavo, Michref Antonio, Tanus Eduardo et al.
    Pages 7-14
  4. Tsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, Robert W. Mason, William G. Mackenzie, Yuniko Shibata et al.
    Pages 15-24
  5. M. Besouw, E. Cornelissen, D. Cassiman, L. Kluijtmans, L. van den Heuvel, E. Levtchenko
    Pages 25-30
  6. M. J. Barrett, V. L. Shanker, W. L. Severt, D. Raymond, S. J. Gross, N. Schreiber-Agus et al.
    Pages 31-38
  7. Haruhito Harada, Hiroshi Niiyama, Atsushi Katoh, Hisao Ikeda
    Pages 39-45
  8. A. Broomfield, L. Abulhoul, W. Pitt, E. Jameson, M. Cleary
    Pages 51-56
  9. Sonya Dragneva, Monika Szyszka-Niagolov, Aneta Ivanova, Lyudmila Mateva, Rumiko Izumi, Yoko Aoki et al.
    Pages 57-64
  10. Osama Y. Al-Dirbashi, Nathan McIntosh, Christine McRoberts, Larry Fisher, Mohamed S. Rashed, Nawal Makhseed et al.
    Pages 65-73
  11. Heidi S. Lumish, Yaping Yang, Fan Xia, Ashley Wilson, Wendy K. Chung
    Pages 75-79
  12. Maria G. Alessandrì, Manuela Casarano, Ilaria Pezzini, Stefano Doccini, Claudia Nesti, Giovanni Cioni et al.
    Pages 81-87
  13. Hugo Rocha, Daisy Castiñeiras, Carmen Delgado, José Egea, Raquel Yahyaoui, Yolanda González et al.
    Pages 89-94
  14. Sitke Aygen, Ulrich Dürr, Peter Hegele, Johannes Kunig, Manfred Spraul, Hartmut Schäfer et al.
    Pages 101-111

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.


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.WSU Division of Health Sciences Clinical Pharmacology UnitSpokaneUSA
  3. 3.Department of Biochemistry Genetics UnitUniversity of OxfordOxfordUnited Kingdom
  4. 4.Department of Pediatrics IGMDTulane University Medical School Hayward Genetics CenterNew OrleansUSA
  5. 5.Heidelberg University Hospital Centre for Child & Adolescent MedHeidelbergGermany

Bibliographic information

  • Book Title JIMD Reports Volume 16
  • 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 978-3-662-44586-0
  • eBook ISBN 978-3-662-44587-7
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 111
  • Number of Illustrations 22 b/w illustrations, 12 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Human Physiology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals