JIMD Reports, Volume 17

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

Part of the JIMD Reports book series (JIMD, volume 17)

Table of contents

  1. Front Matter
    Pages i-vi
  2. R. M. K. Stewart, M. C. Briggs, J. C. Jarvis, J. A. Gallagher, L. Ranganath
    Pages 1-6
  3. Alessandra Zanetti, Rosella Tomanin, Angelica Rampazzo, Chiara Rigon, Nicoletta Gasparotto, Matteo Cassina et al.
    Pages 13-21
  4. Leah E. Hecht, Ann E. Wessel, Harvey L. Levy, Gerard T. Berry
    Pages 37-39
  5. Britt van Erven, Myrna M. M. Römers, M. Estela Rubio-Gozalbo
    Pages 41-46
  6. Mari Mori, John R. Mytinger, Lisa C. Martin, Dennis Bartholomew, Scott Hickey
    Pages 47-51
  7. Nesrin Karabul, Anika Skudlarek, Janine Berndt, Cornelia Kornblum, Rudolf A. Kley, Stephan Wenninger et al.
    Pages 53-61
  8. Hayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, Burcu Berberoglu-Ates, Yusuf Aydemir, Erdal Sag et al.
    Pages 63-66
  9. Annapurna Sudarsanam, Harry Singh, Bridget Wilcken, Michael Stormon, Susan Arbuckle, Bernhard Schmitt et al.
    Pages 67-70
  10. Dong-Hwan Lee, Wen-Juan Qiu, Jeongho Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
    Pages 71-75
  11. Celia Atkinson, Isabelle R. Miousse, David Watkins, David S. Rosenblatt, Julian A. J. Raiman
    Pages 77-81
  12. L. van der Tol, David Cassiman, Gunnar Houge, Mirian C. Janssen, Robin H Lachmann, Gabor E Linthorst et al.
    Pages 83-90
  13. Alessandra Brambilla, Savina Mannarino, Roberta Pretese, Serena Gasperini, Cinzia Galimberti, Rossella Parini
    Pages 91-95

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

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.Tulane University Medical SchoolNew OrleansUSA
  5. 5.Heidelberg University Hospital Centre for Child & Adolescent MedHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-44578-5
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2014
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-662-44577-8
  • Online ISBN 978-3-662-44578-5
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book