JIMD Reports, Volume 31

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

Part of the JIMD Reports book series (JIMD, volume 31)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Nina A. Zeltner, Markus A. Landolt, Matthias R. Baumgartner, Sarah Lageder, Julia Quitmann, Rachel Sommer et al.
    Pages 1-9
  3. Jyotsna Verma, Divya C. Thomas, David C. Kasper, Sandeepika Sharma, Ratna D. Puri, Sunita Bijarnia-Mahay et al.
    Pages 15-27
  4. Gabriella Jacomelli, Vanna Micheli, Giulia Bernardini, Lia Millucci, Annalisa Santucci
    Pages 51-56
  5. Natascia Anastasio, Maja Tarailo-Graovac, Reem Al-Khalifah, Laurent Legault, Britt Drogemoller, Colin J.D. Ross et al.
    Pages 57-62
  6. Irene De Biase, Krista S. Viau, Aiping Liu, Tatiana Yuzyuk, Lorenzo D. Botto, Marzia Pasquali et al.
    Pages 63-71
  7. Mari Mori, Lauren A. Bailey, Januario Estrada, Catherine W. Rehder, Jennifer S. Li, Joseph G. Rogers et al.
    Pages 79-83
  8. M. A. Spitz, M. A. Nguyen, S. Roche, B. Heron, M. Milh, P. de Lonlay et al.
    Pages 85-93
  9. Anne-Els van de Logt, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Mirian C. H. Janssen
    Pages 95-99
  10. Ivo Barić, Sahin Erdol, Halil Saglam, Mila Lovrić, Robert Belužić, Oliver Vugrek et al.
    Pages 101-106
  11. Irina Anselm, Morgan MacCuaig, Sanjay B. Prabhu, Gerard T. Berry
    Pages 107-111
  12. Irina Anselm, Morgan MacCuaig, Sanjay P. Prabhu, Gerard T. Berry
    Pages 113-113

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
    • 1
  • Matthias Baumgartner
    • 2
  • Marc Patterson
    • 3
  • Shamima Rahman
    • 4
  • Johannes Zschocke
    • 5
  • Verena Peters
    • 6
  1. 1.Tulane University Medical School New 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 HealthLondonUnited Kingdom
  5. 5.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  6. 6.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-54119-7
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2017
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-54118-0
  • Online ISBN 978-3-662-54119-7
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book
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