JIMD Reports, Volume 28

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

Part of the JIMD Reports book series (JIMD, volume 28)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Jennifer Lagoutte-Renosi, Isabelle Ségalas-Milazzo, Marie Crahes, Florian Renosi, Laurence Menu-Bouaouiche, Stéphanie Torre et al.
    Pages 1-10
  3. Yoo Choi, Alexander B. Tuzikov, Tatyana V. Ovchinnikova, Nicolai V. Bovin, Alexey V. Pshezhetsky
    Pages 11-18
  4. Johannes Krämer, Peter Nordbeck, Stefan Störk, Christian Ritter, Georg Ertl, Christoph Wanner et al.
    Pages 19-28
  5. Anne Daly, S. Evans, A. Gerrard, S. Santra, S. Vijay, A. MacDonald
    Pages 29-39
  6. Irene J. Hoogeveen, Rixt M. van der Ende, Francjan J. van Spronsen, Foekje de Boer, M. Rebecca Heiner-Fokkema, Terry G. J. Derks
    Pages 41-47
  7. Lisa G. Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, David R. Thorburn, Ryan L. Davis, Juliana Teo et al.
    Pages 49-57
  8. Divya Ajay, Erin R. McNamara, Stephanie Austin, John S. Wiener, Priya Kishnani
    Pages 59-67
  9. A. Strandqvist, C. Bieneck Haglind, R. H. Zetterström, A. Nemeth, U. von Döbeln, M. Halldin Stenlid et al.
    Pages 75-84
  10. Linda van der Tol, Camiel Verhamme, Ivo N. van Schaik, Anneke J. van der Kooi, Carla E. M. Hollak, Marieke Biegstraaten
    Pages 95-103
  11. E. Colin, M. Barth, F. Boussion, P. Latour, G. Piguet-Lacroix, A. Guichet et al.
    Pages 105-110
  12. Ursula Plöckinger, Nikolaus Tiling, Lenka Bosanska, Bettina Temmesfeld-Wollbrueck, Kerstin Irlbacher, Viktor Mezger et al.
    Pages 111-118
  13. Mara Doimo, Raffaele Lopreiato, Valentina Basso, Raissa Bortolotto, Alessandra Tessa, Filippo M. Santorelli et al.
    Pages 119-126
  14. Fatma A. Al-Jasmi, Aisha Al-Shamsi, Jozef L. Hertecant, Sania M. Al-Hamad, Abdul-Kader Souid
    Pages 127-135

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 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/10.1007/978-3-662-52847-1
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2016
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-52846-4
  • Online ISBN 978-3-662-52847-1
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book
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