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Table of contents

  1. Front Matter
    Pages i-vi
  2. Karolina M. Stepien, Su Han Lum, J. Edmond Wraith, Christian J. Hendriksz, Heather J. Church, David Priestman et al.
    Pages 17-23
  3. Karolina M. Stepien, Gregory M. Pastores, Una Hendroff, Ciara McCormick, Patricia Fitzimons, Naveed Khawaja et al.
    Pages 29-36
  4. Alexandra Ivleva, Ekaterina Weith, Atul Mehta, Derralynn A. Hughes
    Pages 37-45
  5. William A. Zeiger, Nasheed I. Jamal, Maren T. Scheuner, Patricia Pittman, Kimiyo M. Raymond, Massimo Morra et al.
    Pages 47-51
  6. Bryony Langford, Megan Besford, Aimée Hall, Lucy Eddowes, Oliver Timmis, James A. Gallagher et al.
    Pages 53-62
  7. Adam J. Bittel, Kathryn L. Bohnert, Dominic N. Reeds, Linda R. Peterson, Lisa de las Fuentes, Manuela Corti et al.
    Pages 63-72
  8. Josefine Loeb, Ulla Feldt-Rasmussen, Christoffer Valdorff Madsen, Asmus Vogel
    Pages 73-80
  9. A. S. Davison, B. P. Norman, E. A. Smith, J. Devine, J. Usher, A. T. Hughes et al.
    Pages 109-117
  10. Gerald F. Cox, Lorne A. Clarke, Roberto Giugliani, Margaret M. McGovern
    Pages 119-129

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 SchoolNew OrleansUSA
  2. 2.Division of Metabolism & Children’s Research CentreUniversity Children’s Hospital ZürichZürichSwitzerland
  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/10.1007/978-3-662-58081-3
  • Copyright Information Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-58080-6
  • Online ISBN 978-3-662-58081-3
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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