© 2015

JIMD Reports, Volume 21

  • 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 21)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Tsutomu Shimada, Shunji Tomatsu, Robert W. Mason, Eriko Yasuda, William G. Mackenzie, Jobayer Hossain et al.
    Pages 1-13
  3. Monica F. Lamoureux, Kylie Tingley, Jonathan B. Kronick, Beth K. Potter, Alicia K. J. Chan, Doug Coyle et al.
    Pages 15-22
  4. S. E. Waisbren, F. Rohr, V. Anastasoaie, M. Brown, D. Harris, A. Ozonoff et al.
    Pages 23-33
  5. Neerja Gupta, Pawan Kumar Singh, Manoj Kumar, Shivaram Shastri, Sheffali Gulati, Atin Kumar et al.
    Pages 45-55
  6. Corrado Angelini, Anna C. Nascimbeni, Marina Fanin
    Pages 71-77
  7. Jákup Andreas Thomsen, Allan Meldgaard Lund, Jess Have Olesen, Magni Mohr, Jan Rasmussen
    Pages 79-88
  8. Haitham El Bashir, Lubna Dekair, Yasmeen Mahmoud, Tawfeg Ben-Omran
    Pages 89-95
  9. Stefanie Heiber, Henryk Zulewski, Marianne Zaugg, Caroline Kiss, Matthias Baumgartner
    Pages 103-107
  10. Z. Grover, P. Lewindon, A. Clousten, A. Shaag, O. Elpeleg, D. Coman
    Pages 109-113
  11. Hayato Tada, Masa-aki Kawashiri, Mutsuko Takata, Kunihiro Matsunami, Atsushi Imamura, Misayo Matsuyama et al.
    Pages 115-122
  12. Hannaneh Foroozani, Maryam Abiri, Shadab Salehpour, Hamideh Bagherian, Zohreh Sharifi, Mohammad Reza Alaei et al.
    Pages 123-128
  13. Neerja Gupta, Pawan Kumar Singh, Manoj Kumar, Shivaram Shastri, Sheffali Gulati, Atin Kumar et al.
    Pages 129-129

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 Research CentreUniversity Children’s Hospital ZurichZurichSwitzerland
  3. 3.Tulane University Medical SchoolNew OrleansUSA
  4. 4.Division of Child and Adolescent NeurologyMayo 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 21
  • 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 978-3-662-47171-5
  • eBook ISBN 978-3-662-47172-2
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 129
  • Number of Illustrations 30 b/w illustrations, 14 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Human Physiology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals