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JIMD Reports, Volume 32

  • Eva Morava (Editor-in-Chief)
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters

Part of the JIMD Reports book series (JIMD, volume 32)

Table of contents

  1. Front Matter
    Pages i-vi
  2. E. A. Kemper, A. Boelen, A. M. Bosch, M. van Veen-Sijne, C. N. van Rijswijk, M. J. Bouva et al.
    Pages 1-6
  3. Shohreh Khatami, Soghra Rouhi Dehnabeh, Sirous Zeinali, Beat Thöny, Mohammadreza Alaei, Shadab Salehpour et al.
    Pages 7-14
  4. W. Todd Cade, Dominic N. Reeds, Linda R. Peterson, Kathryn L. Bohnert, Rachel A. Tinius, Paul B. Benni et al.
    Pages 15-24
  5. Annely Richardson, Gerard T. Berry, Cheryl Garganta, Mary-Alice Abbott
    Pages 25-32
  6. M. Rebecca Heiner-Fokkema, Frédéric M. Vaz, Ronald Maatman, Leo A. J. Kluijtmans, Francjan J. van Spronsen, Dirk-Jan Reijngoud
    Pages 33-39
  7. Rachel M. Roberts, Tamara Muller, Annabel Sweeney, Drago Bratkovic, Anne Gannoni, Brianna Morante
    Pages 41-49
  8. Matthias Lauber, Barbara Plecko, Miriam Pfiffner, Jean-Marc Nuoffer, Johannes Häberle
    Pages 51-57
  9. H. Blasco, C. Veyrat-Durebex, M. Bertrand, F. Patin, F. Labarthe, H. Henique et al.
    Pages 69-79
  10. Shohei Akagawa, Toshiyuki Fukao, Yuko Akagawa, Hideo Sasai, Urara Kohdera, Minoru Kino et al.
    Pages 81-85
  11. Jürgen G. Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, Kathrin V. Schmidt, Junmin Fang-Hoffmann, Gwendolyn Gramer et al.
    Pages 87-94
  12. D. C. D. van Eerd, I. A. Brussé, V. F. R. Adriaens, R. T. Mankowski, S. F. E. Praet, M. Michels et al.
    Pages 95-100
  13. Sophy Korula, Penny Owens, Amanda Charlton, Kaustuv Bhattacharya
    Pages 101-104
  14. Friederike Hörster, Stefan Kölker, J. Gerard Loeber, Martina C. Cornel, Georg F. Hoffmann, Peter Burgard
    Pages 105-115

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

inherited metabolic diseases pediatrics medical genetics Mendelian disorder endocrinology

Editors and affiliations

  • Eva Morava (Editor-in-Chief)
    • 1
  • Matthias Baumgartner
    • 2
  • Marc Patterson
    • 3
  • Shamima Rahman
    • 4
  • Johannes Zschocke
    • 5
  • Verena Peters
    • 6
  1. 1.Tulane University Medical SchoolNew OrleansUSA
  2. 2.Division of Metabolism and Children’s Research CentreUniversity Children’s Hospital ZurichZurichSwitzerland
  3. 3.Division of Child and Adolescent NeurologyMayo ClinicRochesterUSA
  4. 4.Clinical and Molecular Genetics UnitUCL Institute of Child HealthLondonUK
  5. 5.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  6. 6.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-54385-6
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2017
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-54384-9
  • Online ISBN 978-3-662-54385-6
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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