© 2016

JIMD Reports, Volume 30

  • 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 30)

Table of contents

  1. Front Matter
    Pages i-vi
  2. M. Pineda, M. O’Callaghan, A. Fernandez Lopez, M. J. Coll, R. Ullot, G. Garcia-Fructuoso
    Pages 7-14
  3. Monique G. M. de Sain-van der Velden, Maria van der Ham, Judith J. Jans, Gepke Visser, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif et al.
    Pages 15-22
  4. P. Ruiz Sala, G. Ruijter, C. Acquaviva, A. Chabli, M. G. M. de Sain-van der Velden, J. Garcia-Villoria et al.
    Pages 23-31
  5. Rebecca D. Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, Andrew Edmondson, Matthew A. Deardorff, Michael J. Bennett et al.
    Pages 33-37
  6. Marcus J. Miller, Bret L. Bostwick, Adam D. Kennedy, Taraka R. Donti, Qin Sun, V. Reid Sutton et al.
    Pages 39-44
  7. Berardino Porfirio, Roberta Sestini, Greta Gorelli, Miriam Cordovana, Alessandro Mannoni, Jeanette L. Usher et al.
    Pages 45-52
  8. Zeynep Tamay, Gulden Gokcay, Fatih Dilek, Mehmet Cihan Balci, Deniz Ozceker, Mubeccel Demirkol et al.
    Pages 53-57
  9. Takashi Higuchi, Masahisa Kobayashi, Jin Ogata, Eiko Kaneshiro, Yohta Shimada, Hiroshi Kobayashi et al.
    Pages 63-72
  10. Amanda Smith, Skye McBride, Julien L. Marcadier, Jean Michaud, Osama Y. Al-Dirbashi, Jeremy Schwartzentruber et al.
    Pages 73-79
  11. John M. Schreiber, Phillip L. Pearl, Irene Dustin, Edythe Wiggs, Emily Barrios, Eric M. Wassermann et al.
    Pages 81-87
  12. Haiqing Yi, Quan Zhang, Chunyu Yang, Priya S. Kishnani, Baodong Sun
    Pages 89-94
  13. Heather M. Byers, Robin L. Bennett, Emily A. Malouf, Michael D. Weiss, Jie Feng, C. Ronald Scott et al.
    Pages 103-108
  14. Heather M. Byers, Robin L. Bennett, Emily A. Malouf, Michael D. Weiss, Jie Feng, C. Ronald Scott et al.
    Pages 109-109

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 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 HealthLondonUnited Kingdom
  5. 5.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  6. 6.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

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