Table of contents

  1. Front Matter
    Pages i-vi
  2. Kazushi Ichikawa, Megumi Tsuji, Yu Tsuyusaki, Moyoko Tomiyasu, Noriko Aida, Tomohide Goto
    Pages 7-12
  3. Mary Kay Koenig, Penelope E. Bonnen
    Pages 13-17
  4. Anja von Renesse, Susanne Morales-Gonzalez, Esther Gill, Gajja S. Salomons, Werner Stenzel, Markus Schuelke
    Pages 27-35
  5. Ningning Guo, Victor DeAngelis, Changzhi Zhu, Edward H. Schuchman, Calogera M. Simonaro
    Pages 37-52
  6. Teruo Miyazaki, Hironori Nagasaka, Haruki Komatsu, Ayano Inui, Ichiro Morioka, Hirokazu Tsukahara et al.
    Pages 53-61
  7. C. A. Stutterd, N. J. Lake, H. Peters, P. J. Lockhart, R. J. Taft, M. S. van der Knaap et al.
    Pages 63-70
  8. Douglas Bush, Leighann Sremba, Kate Lomax, Jill Lipsett, David Ketteridge, Drago Bratkovic et al.
    Pages 71-77
  9. Sara Musa, Wafaa Eyaid, Kimberli Kamer, Rehab Ali, Mariam Al-Mureikhi, Noora Shahbeck et al.
    Pages 79-83
  10. Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda et al.
    Pages 85-90
  11. Leanne K. Winner, Neil R. Marshall, Robert D. Jolly, Paul J. Trim, Stephen K. Duplock, Marten F. Snel et al.
    Pages 91-101
  12. Colleen M. Carlston, Sacha Ferdinandusse, Judith A. Hobert, Rong Mao, Nicola Longo
    Pages 103-109
  13. D. Quelhas, J. Jaeken, A. Fortuna, L. Azevedo, A. Bandeira, G. Matthijs et al.
    Pages 111-116
  14. Erika F. Augustine, Christopher A. Beck, Heather R. Adams, Sara Defendorf, Amy Vierhile, Derek Timm et al.
    Pages 117-124

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

  • DOI
  • Copyright Information Society for the Study of Inborn Errors of Metabolism (SSIEM) 2019
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-58613-6
  • Online ISBN 978-3-662-58614-3
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site