© 2018

JIMD Reports, Volume 39

  • Eva Morava (Editor-in-Chief)
  • 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 39)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Annalisa Creanza, Mariella Cotugno, Cristina Mazzaccara, Giulia Frisso, Giancarlo Parenti, Brunella Capaldo
    Pages 1-6
  3. Emanuela Manea, Paul Gissen, Simon Pope, Simon J. Heales, Spyros Batzios
    Pages 7-12
  4. Mari-Anne Vals, Sander Pajusalu, Mart Kals, Reedik Mägi, Katrin Õunap
    Pages 13-17
  5. Sidharth Mahapatra, Amitha Ananth, Nancy Baugh, Mihaela Damian, Gregory M. Enns
    Pages 19-23
  6. Marcel du Moulin, Bastian Thies, Martin Blohm, Jun Oh, Markus J. Kemper, René Santer et al.
    Pages 25-30
  7. Monica H. Wojcik, Klaas J. Wierenga, Lance H. Rodan, Inderneel Sahai, Sacha Ferdinandusse, Casie A. Genetti et al.
    Pages 45-54
  8. A. Broomfield, J. Fletcher, P. Hensman, R. Wright, H. Prunty, J. Pavaine et al.
    Pages 55-62
  9. B. Merinero, P. Alcaide, E. Martín-Hernández, A. Morais, M. T. García-Silva, P. Quijada-Fraile et al.
    Pages 63-74
  10. Annukka Lehtonen, Stewart Rust, Simon Jones, Richard Brown, Dougal Hare
    Pages 75-81
  11. Irene C. Huffnagel, Egbert J. W. Redeker, Liesbeth Reneman, Frédéric M. Vaz, Sacha Ferdinandusse, Bwee Tien Poll-The
    Pages 83-87
  12. Paula J. Waters, Thomas M. Kitzler, Annette Feigenbaum, Michael T. Geraghty, Osama Al-Dirbashi, Patrick Bherer et al.
    Pages 89-96

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 (Editor-in-Chief)
    • 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

Industry Sectors
Health & Hospitals