© 2015

JIMD Reports, Volume 22

  • Johannes Zschocke
  • Matthias Baumgartner
  • Eva Morava
  • Marc Patterson
  • Shamima Rahman
  • Verena Peters
  • Unique collection of case and research reports on rare metabolic disorders

  • Contains unusual or previously unrecorded features relevant to metabolic disorders

  • All contributions rigorously peer-reviewed


Part of the JIMD Reports book series (JIMD, volume 22)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Wladimir Mauhin, Olivier Lidove, Elisa Masat, Federico Mingozzi, Kuberaka Mariampillai, Jean-Marc Ziza et al.
    Pages 1-10
  3. Majid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, Hesham Alshaalan, Ali Al Othaim, Shatha Al Rasheed et al.
    Pages 11-16
  4. Estefanía Lang, Martin Schäfer, Holger Schwender, Norbert J. Neumann, Jorge Frank
    Pages 17-22
  5. Aneal Khan, David A. Hanley, Colleen McNeil, Steven Boyd
    Pages 23-28
  6. Stefan Kölker, Dries Dobbelaere, Johannes Häberle, Peter Burgard, Florian Gleich, Marshall L. Summar et al.
    Pages 29-38
  7. I. M. L. W. Körver-Keularts, M. de Visser, H. D. Bakker, R. J. A. Wanders, F. Vansenne, H. R. Scholte et al.
    Pages 39-45
  8. Joanne T. Marsden, Simon Guppy, Penelope Stein, Timothy M. Cox, Michael Badminton, Tricia Gardiner et al.
    Pages 57-65
  9. Alina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, Pierre Allard, Catherine Brunel-Guitton, Paola Diadori et al.
    Pages 67-75
  10. Johann Hofereiter, Matthew D. Smith, Jai Seth, Katarina Ivana Tudor, Zoe Fox, Anton Emmanuel et al.
    Pages 77-83
  11. Masa-aki Kawashiri, Hayato Tada, Marowa Hashimoto, Matsuo Taniyama, Takamitsu Nakano, Katsuyuki Nakajima et al.
    Pages 85-94
  12. Stefanie Kung, Mark Walters, Peter Claes, Peter LeSouef, Jack Goldblatt, Andrew Martin et al.
    Pages 99-106
  13. Anna Ardissone, Tiziana Granata, Andrea Legati, Daria Diodato, Laura Melchionda, Eleonora Lamantea et al.
    Pages 115-120

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
  • Matthias Baumgartner
    • 2
  • Eva Morava
    • 3
  • Marc Patterson
    • 4
  • Shamima Rahman
    • 5
  • Verena Peters
    • 6
  1. 1.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  2. 2.Division of Metabolism and Children’s ReUniversity Children’s Hospital ZurichZurichSwitzerland
  3. 3.Tulane University Medical SchoolNew OrleansUSA
  4. 4.Division of Child and Adolescent NeuroloMayo ClinicRochesterUSA
  5. 5.Clinical and Molecular Genetics UnitUCL Institute of Child HealthLondonUnited Kingdom
  6. 6.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

  • Book Title JIMD Reports, Volume 22
  • Editors Johannes Zschocke
    Matthias Baumgartner
    Eva Morava
    Marc Patterson
    Shamima Rahman
    Verena Peters
  • Series Title JIMD Reports
  • Series Abbreviated Title JIMD Reports
  • DOI
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2015
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Softcover ISBN 978-3-662-47452-5
  • eBook ISBN 978-3-662-47453-2
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 120
  • Number of Illustrations 18 b/w illustrations, 17 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Human Physiology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals