JIMD Reports, Volume 40

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

Part of the JIMD Reports book series (JIMD, volume 40)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Mei-Hsin Li
    Pages 1-6
  3. Wienke H. Galama, Sandra L. J. Verhaagen – van den Akker, Dirk J. Lefeber, Ilse Feenstra, Aad Verrips
    Pages 11-16
  4. Farrah Rajabi, Lance H. Rodan, Maureen M. Jonas, Janet S. Soul, Nicole J. Ullrich, Ann Wessel et al.
    Pages 17-22
  5. Hardo Lilleväli, Karit Reinson, Kai Muru, Kristi Simenson, Ülle Murumets, Tõnu Möls et al.
    Pages 39-45
  6. Abdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, Ali Alasmari, Fuad Al Mutairi, Abdulrahman Alswaid et al.
    Pages 47-53
  7. I. Castro-Ferreira, Rute Carmo, Sérgio Estrela Silva, Otília Corrêa, Susana Fernandes, Susana Sampaio et al.
    Pages 55-62
  8. Erin Conboy, Filippo Vairo, Matthew Schultz, Katherine Agre, Ross Ridsdale, David Deyle et al.
    Pages 63-69
  9. S. Doyle, M. O’Regan, C. Stenson, J. Bracken, U. Hendroff, A. Agasarova et al.
    Pages 71-76
  10. B. Ryder, F. Moore, A. Mitchell, S. Thompson, J. Christodoulou, S. Balasubramaniam
    Pages 77-83
  11. Bimal Patel, Surekha Pendyal, Priya S. Kishnani, Marie McDonald, Lauren Bailey
    Pages 85-90
  12. C. Bursle, R. Weintraub, C. Ward, R. Justo, J. Cardinal, D. Coman
    Pages 91-95

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

Bibliographic information

  • 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
  • Print ISBN 978-3-662-57879-7
  • Online ISBN 978-3-662-57880-3
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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