JIMD Reports, Volume 18

  • Johannes Zschocke
  • Matthias Baumgartner
  • Eva Morava
  • Marc Patterson
  • Shamima Rahman
  • Verena Peters

Part of the JIMD Reports book series (JIMD, volume 18)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Adrian Quartel, Christian J. Hendriksz, Rossella Parini, Sue Graham, Ping Lin, Paul Harmatz
    Pages 1-11
  3. Yohta Shimada, Erica Nishimura, Hiroo Hoshina, Hiroshi Kobayashi, Takashi Higuchi, Yoshikatsu Eto et al.
    Pages 33-39
  4. Virginia G. Wadley, Leslie A. McClure, David G. Warnock, Caroline L. Lassen-Greene, Robert J. Hopkin, Dawn A. Laney et al.
    Pages 41-50
  5. Liam R. Brunham, Martin H. Kang, Clara Van Karnebeek, Singh N. Sadananda, Jennifer A. Collins, Lin-Hua Zhang et al.
    Pages 51-62
  6. Lindsey Welling, Jan Pieter Marchal, Peter van Hasselt, Ans T. van der Ploeg, Frits A. Wijburg, Jaap Jan Boelens
    Pages 63-68
  7. Alexis Chenouard, Sandrine Vuillaumier-Barrot, Nathalie Seta, Alice Kuster
    Pages 79-83
  8. M. J. Fraidakis, C. Liadinioti, L. Stefanis, A. Dinopoulos, R. Pons, M. Papathanassiou et al.
    Pages 85-92
  9. Gianluigi Mazzoccoli, Tommaso Mazza, Manlio Vinciguerra, Stefano Castellana, Maurizio Scarpa
    Pages 93-105
  10. Christos Sotiropoulos, George Theodorou, Constantina Repa, Theodoros Marinakis, Eugenia Verigou, Elena Solomou et al.
    Pages 107-115
  11. Danique van Vliet, Esther van Dam, Margreet van Rijn, Terry G. J. Derks, Gineke Venema-Liefaard, Marrit M. Hitzert et al.
    Pages 117-124
  12. Amy Brown, Louise Crowe, Miriam H. Beauchamp, Vicki Anderson, Avihu Boneh
    Pages 125-134
  13. Allan Bayat, Mette Christensen, Flemming Wibrand, Morten Duno, Allan Lund
    Pages 135-137

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 for Metabolic DiseasesUniversity Children´s HospitalZürichSwitzerland
  3. 3.Department of Pediatrics IGMDTulane University Medical School Hayward Genetics CenterNew OrleansUSA
  4. 4.Division of Child and Adolescent NeuroloMayo ClinicRochesterUSA
  5. 5.Clinical and Molecular Genetics UnitUCL Institute of Child HealthLondonUnited Kingdom
  6. 6.Heidelberg University Hospital Centre for Child & Adolescent MedHeidelbergGermany

Bibliographic information

  • DOI
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2015
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-662-44862-5
  • Online ISBN 978-3-662-44863-2
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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