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JIMD Reports – Case and Research Reports, 2012/6

  • Johannes Zschocke
  • K. Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters

Part of the JIMD Reports book series (JIMD, volume 9)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Elsebet Ostergaard, Morten Duno, Lisbeth Birk Møller, H. Serap Kalkanoglu-Sivri, Ali Dursun, Didem Aliefendioglu et al.
    Pages 1-5
  3. Marina Siebert, Hugo Bock, Kristiane Michelin-Tirelli, Janice C. Coelho, Roberto Giugliani, Maria Luiza Saraiva-Pereira
    Pages 7-16
  4. F. J. Stoop, M. C. Kruyt, M. H. van der Linden, R. J. B. Sakkers, P. M. van Hasselt, R. M. C. Castelein
    Pages 17-29
  5. A. G. Thiele, J. F. Weigel, B. Ziesch, C. Rohde, U. Mütze, U. Ceglarek et al.
    Pages 31-40
  6. A. Pisani, L. Spinelli, B. Visciano, I. Capuano, M. Sabbatini, E. Riccio et al.
    Pages 41-48
  7. Maja Djordjevic, Kristel Klaassen, Adrijan Sarajlija, Natasa Tosic, Branka Zukic, Bozica Kecman et al.
    Pages 49-58
  8. Riffat Aslam, Annelotte C. M. van Bommel, Christian J. Hendriksz, Andrea Jester
    Pages 59-65
  9. GianPietro Sechi, Isabella Ceccherini, Tiziana Bachetti, Giovanni A. Deiana, Elia Sechi, Pietro Balbi
    Pages 67-71
  10. N. Ramanathan, M. Ahmed, E. Raffan, C. L. Stewart, S. O’Rahilly, R. K. Semple et al.
    Pages 73-80 Open Access
  11. M. C. Tchan, B. Wilcken, J. Christodoulou
    Pages 81-84
  12. Talita E R Adelino, Gustavo G Martins, Aretta A A Gomes, Adriana A Torres, Daniel A S Silva, Vinícius D O Xavier et al.
    Pages 85-91
  13. A. Benarrosh, R. Garnotel, A. Henry, C. Arndt, P. Gillery, J. Motte et al.
    Pages 93-96
  14. Katalin Komlósi, Anita Maász, Péter Kisfali, Kinga Hadzsiev, Judit Bene, Béla I Melegh et al.
    Pages 105-111
  15. Gerarda Cappuccio, Nicola Brunetti-Pierri, Gaetano Terrone, Alfonso Romano, Generoso Andria, Ennio Del Giudice
    Pages 113-116
  16. E. J. Langereis, I. E. T. van den Berg, D. J. J. Halley, B. J. H. M. Poorthuis, F. M. Vaz, J. H. J. Wokke et al.
    Pages 117-120
  17. Allison Jay, Mary Seeterlin, Eleanor Stanley, Robert Grier
    Pages 121-124
  18. Ina Knerr, Karen P. Coss, Peter P. Doran, Joanne Hughes, Nick Wareham, Keith Burling et al.
    Pages 125-131
  19. Hamoud H. Al Khallaf, Jennifer Propst, Serge Geffrard, Eleanor Botha, M. Ali Pervaiz
    Pages 133-137
  20. Phillip L. Pearl, Keith Hyland, J Chiles, Colleen L McGavin, Yuezhou Yu, Donald Taylor
    Pages 139-142
  21. Katalin Komlósi, Anita Maász, Péter Kisfali, Kinga Hadzsiev, Judit Bene, Béla I. Melegh et al.
    Pages E1-E1
  22. N. Ramanathan, M. Ahmed, E. Raffan, C. L. Stewart, S. O’Rahilly, R. K. Semple et al.
    Pages E3-E3

About this book

Introduction

  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.

Keywords

endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

  • Johannes Zschocke
    • 1
  • K. Michael Gibson
    • 2
  • Garry Brown
    • 3
  • Eva Morava
    • 4
  • Verena Peters
    • 5
  1. 1.Sektionen für Humangenetik und KlinischeMedizinische Universität InnsbruckInnsbruckAustria
  2. 2.Biological SciencesMichigan Technological UniversityHoughtonUSA
  3. 3.Department of Biochemistry Genetics UnitUniversity of OxfordOxfordUK
  4. 4.Medical Center Department of Pediatrics IGMDRadboud University NijmegenNijmegenNetherlands
  5. 5.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-642-35518-9
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2013
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-35517-2
  • Online ISBN 978-3-642-35518-9
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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