© 2015

JIMD Reports, Volume 19

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

Part of the JIMD Reports book series (JIMD, volume 19)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Thanh-Thanh (Claire) V. Tran, Ying Liu, Michael E. Zwick, Dhanya Ramachandran, David J. Cutler, Xiaoping Huang et al.
    Pages 1-6
  3. Flavie Bompaire, Véronique Marcaud, Emmanuelle Le Trionnaire, Frédéric Sedel, Thierry Levade
    Pages 7-10
  4. Theresa B. Flanagan, Jill A. Sutton, Laurie M. Brown, David A. Weinstein, Lisa J. Merlo
    Pages 23-29
  5. Sema Kalkan Uçar, Burcu Ozbaran, Yasemin Atik Altinok, Melis Kose, Ebru Canda, Mehtap Kagnici et al.
    Pages 31-33
  6. Maines Evelina, Morandi Grazia, Olivieri Francesca, Camilot Marta, Cavarzere Paolo, Gaudino Rossella et al.
    Pages 35-41
  7. Francesca Angileri, Anne Bergeron, Geneviève Morrow, Francine Lettre, George Gray, Tim Hutchin et al.
    Pages 43-58
  8. Yin-Hsiu Chien, Jennifer L. Goldstein, Wuh-Liang Hwu, P. Brian Smith, Ni-Chung Lee, Shu-Chuan Chiang et al.
    Pages 67-73
  9. Mary Ellen Lynch, Nancy L. Potter, Claire D. Coles, Judith L. Fridovich-Keil
    Pages 75-84
  10. Sunita Bijarnia-Mahay, Sireesha Movva, Neerja Gupta, Deepak Sharma, Ratna D. Puri, Udhaya Kotecha et al.
    Pages 85-93
  11. Marcus Brecht, Malcolm Richardson, Ajay Taranath, Scott Grist, David Thorburn, Drago Bratkovic
    Pages 95-100
  12. Johanna Galvis, Jannet González, Alfredo Uribe, Harvy Velasco
    Pages 101-109
  13. Jun Hwa Lee, André B. P. van Kuilenburg, N. G. G. M. Abeling, Valeria Vasta, Si Houn Hahn
    Pages 117-121
  14. Evelina Maines, Grazia Morandi, Francesca Olivieri, Marta Camilot, Paolo Cavarzere, Rossella Gaudino et al.
    Pages 123-123

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.


Mendelian disorder endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

  • Johannes Zschocke
    • 1
  • Matthias Baumgartner
    • 2
  • Eva Morava
    • 3
  • Marc Patterson
    • 4
  • Shamima Rahman
    • 5
  • Verena Peters
    • 6
  1. 1.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  2. 2.Division for Metabolic DiseasesUniversity Children´s HospitalZürichSwitzerland
  3. 3.Tulane University Medical SchoolNew OrleansUSA
  4. 4.Division of Child and Adolescent NeuroloMayo ClinicRochesterUSA
  5. 5.Clinical and Molecular Genetics UnitUCL Institute of Child HealthLondonUnited Kingdom
  6. 6.Centre for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

  • Book Title JIMD Reports, Volume 19
  • Editors Johannes Zschocke
    Matthias Baumgartner
    Eva Morava
    Marc Patterson
    Shamima Rahman
    Verena Peters
  • Series Title JIMD Reports
  • Series Abbreviated Title JIMD Reports
  • DOI
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2015
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Softcover ISBN 978-3-662-46189-1
  • eBook ISBN 978-3-662-46190-7
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 121
  • Number of Illustrations 5 b/w illustrations, 17 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Human Physiology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals