© 2017

JIMD Reports, Volume 36

  • 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 36)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Grace Stuhrman, Stefanie J. Perez Juanazo, Kea Crivelly, Jennifer Smith, Hans Andersson, Eva Morava
    Pages 1-5
  3. Saskia Koene, Ilse Dirks, Esmee van Mierlo, Pascal R. de Vries, Anjo J. W. M. Janssen, Jan A. M. Smeitink et al.
    Pages 7-17
  4. Alberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, Valeria Bertasi, Marinella Turla, Ettore Salsano et al.
    Pages 19-27
  5. Jan Rasmussen, David M. Hougaard, Noreen Sandhu, Katrine Fjællegaard, Poula R. Petersen, Ulrike Steuerwald et al.
    Pages 35-40
  6. Irene Mavridou, Evangelia Dimitriou, Marie T. Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour et al.
    Pages 41-48
  7. Esther van Dam, Anne Daly, Gineke Venema-Liefaard, Margreet van Rijn, Terry G. J. Derks, Patrick J. McKiernan et al.
    Pages 49-57
  8. Tanya Lobo-Prada, Heinrich Sticht, Sixto Bogantes-Ledezma, Arif Ekici, Steffen Uebe, André Reis et al.
    Pages 59-66
  9. Kathryn E. Coakley, Eric I. Felner, Vin Tangpricha, Peter W. F. Wilson, Rani H. Singh
    Pages 67-77
  10. Evelyn M. Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L. Metzger, Sandra Sirrs
    Pages 79-84
  11. Charles Shyng, Shannon L. Macauley, Joshua T. Dearborn, Mark S. Sands
    Pages 85-92
  12. S. S. Johansen, X. Wang, D. Sejer Pedersen, P. L. Pearl, J.-B. Roullet, G. R. Ainslie et al.
    Pages 93-98
  13. Danja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, David C. Rees, Penelope Stein, Julian Barth et al.
    Pages 99-107
  14. Gustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, Vânia D’Almeida
    Pages 109-116

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 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

About the editors

Bibliographic information

  • Book Title JIMD Reports, Volume 36
  • 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) 2017
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences Biomedical and Life Sciences (R0)
  • Softcover ISBN 978-3-662-56137-9
  • eBook ISBN 978-3-662-56138-6
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 120
  • Number of Illustrations 9 b/w illustrations, 11 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Molecular Medicine
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals