JIMD Reports, Volume 41

Focus Issue: Adults and Metabolism

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

Part of the JIMD Reports book series (JIMD, volume 41)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Karolina M. Stepien, Su Han Lum, J. Edmond Wraith, Christian J. Hendriksz, Heather J. Church, David Priestman et al.
    Pages 17-23
  3. Karolina M. Stepien, Gregory M. Pastores, Una Hendroff, Ciara McCormick, Patricia Fitzimons, Naveed Khawaja et al.
    Pages 29-36
  4. Alexandra Ivleva, Ekaterina Weith, Atul Mehta, Derralynn A. Hughes
    Pages 37-45
  5. William A. Zeiger, Nasheed I. Jamal, Maren T. Scheuner, Patricia Pittman, Kimiyo M. Raymond, Massimo Morra et al.
    Pages 47-51
  6. Bryony Langford, Megan Besford, Aimée Hall, Lucy Eddowes, Oliver Timmis, James A. Gallagher et al.
    Pages 53-62
  7. Adam J. Bittel, Kathryn L. Bohnert, Dominic N. Reeds, Linda R. Peterson, Lisa de las Fuentes, Manuela Corti et al.
    Pages 63-72
  8. Josefine Loeb, Ulla Feldt-Rasmussen, Christoffer Valdorff Madsen, Asmus Vogel
    Pages 73-80
  9. A. S. Davison, B. P. Norman, E. A. Smith, J. Devine, J. Usher, A. T. Hughes et al.
    Pages 109-117
  10. Gerald F. Cox, Lorne A. Clarke, Roberto Giugliani, Margaret M. McGovern
    Pages 119-129
  11. Adam J. Bittel, Kathryn L. Bohnert, Dominic N. Reeds, Linda R. Peterson, Lisa de las Fuentes, Manuela Corti et al.
    Pages C1-C1

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