JIMD Reports - Case and Research Reports, 2012/5

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

Part of the JIMD Reports book series (JIMD, volume 8)

Table of contents

  1. Front Matter
    Pages i-vii
  2. Cosima Rhein, Julia Naumann, Christiane Mühle, Peter Zill, Mazda Adli, Ulrich Hegerl et al.
    Pages 1-6
  3. Pankaj Garg, Kevin Carpenter, Shanley Chong, John Christodoulou
    Pages 11-15
  4. M. Dercksen, A. C. Crutchley, E. M. Honey, M. M. Lippert, G. Matthijs, L. J. Mienie et al.
    Pages 17-23
  5. Stefanie Kung, Mark Walters, Peter Claes, Jack Goldblatt, Peter Le Souef, Gareth Baynam
    Pages 31-39
  6. Graeme K Ambler, Matthew Hoare, Rebecca Brais, Ashley Shaw, Andrew Butler, Paul Flynn et al.
    Pages 41-46
  7. Paul de Laat, Saskia Koene, Lambert P. W. J. vd Heuvel, Richard J. T. Rodenburg, Mirian C. H. Janssen, Jan A. M. Smeitink
    Pages 47-50
  8. Gabor E. Linthorst, Alessandro P. Burlina, Franco Cecchi, Timothy M. Cox, Janice M. Fletcher, Ulla Feldt-Rasmussen et al.
    Pages 51-56
  9. Daniel Palanca, Angels Garcia-Cazorla, Jessica Ortiz, Cristina Jou, Victoria Cusí, Mariona Suñol et al.
    Pages 57-62
  10. Moin Vera, Thomas Lester, Bin Zhao, Pascale Tiger, Scott Clarke, Brigette L. Tippin et al.
    Pages 63-72
  11. T. Litwin, G. Gromadzka, J. Samochowiec, A. Grzywacz, A. Członkowski, A. Członkowska
    Pages 73-80 Open Access
  12. C. Bieneck Haglind, M. Halldin Stenlid, S. Ask, J. Alm, A. Nemeth, Uv. Döbeln et al.
    Pages 81-90 Open Access
  13. J. Villalobos, J. M. Politei, A. M. Martins, G. Cabrera, H. Amartino, R. Lemay et al.
    Pages 91-99 Open Access
  14. W. Terryn, R. Vanholder, D. Hemelsoet, B. P. Leroy, W. Van Biesen, G. De Schoenmakere et al.
    Pages 101-108 Open Access
  15. Mary Lou Lindegren, Shanthi Krishnaswami, Tyler Reimschisel, Christopher Fonnesbeck, Nila A. Sathe, Melissa L. McPheeters
    Pages 109-119 Open Access
  16. Adeline A Lau, N. Jannah Shamsani, Leanne K. Winner, Sofia Hassiotis, Barbara M. King, John J. Hopwood et al.
    Pages 121-132 Open Access
  17. Elena Vanadia, K. Michael Gibson, Phillip L. Pearl, Emanuele Trapolino, Salvatore Mangano, Francesca Vanadia
    Pages 133-137 Open Access
  18. S. M. Sirrs, H. Faghfoury, E. M. Yoshida, T. Geberhiwot
    Pages 139-144 Open Access

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 BiochemistryUniversity of OxfordOxfordUnited Kingdom
  4. 4.Medical Center, Department of PediatricsRadboud University NijmegenNijmegenNetherlands
  5. 5.Heidelberg University HospitalCenter for Child and Adolescent MedicineHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-642-33433-7
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2013
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-33432-0
  • Online ISBN 978-3-642-33433-7
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book