© 2018

JIMD Reports, Volume 41

Focus Issue: Adults and Metabolism

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


  • Unique collection of case and research reports on rare metabolic disorders

  • Contains unusual or previously unrecorded features relevant to metabolic disorders

  • All contributions rigorously peer-reviewed


Part of the JIMD Reports book series (JIMD, volume 41)

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
  11. Adam J. Bittel, Kathryn L. Bohnert, Dominic N. Reeds, Linda R. Peterson, Lisa de las Fuentes, Manuela Corti et al.
    Pages C1-C1

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.


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

  • Book Title JIMD Reports, Volume 41
  • Book Subtitle Focus Issue: Adults and Metabolism
  • Editors Eva Morava
    Matthias Baumgartner
    Marc Patterson
    Shamima Rahman
    Johannes Zschocke
    Verena Peters
  • Series Title JIMD Reports
  • Series Abbreviated Title JIMD Reports
  • DOI
  • Copyright Information Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences Biomedical and Life Sciences (R0)
  • Softcover ISBN 978-3-662-58080-6
  • eBook ISBN 978-3-662-58081-3
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 131
  • Number of Illustrations 9 b/w illustrations, 13 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Molecular Medicine
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals