© 2012

JIMD Reports - Case and Research Reports, 2012/2

  • Unique collection of case and research reports on rare metabolic disorders

  • Contains unusual or previously unrecorded features relevant to metabolic disorders

  • All contributions rigorously peer-reviewed


Part of the JIMD Reports book series (JIMD, volume 5)

Table of contents

  1. Front Matter
    Pages i-vii
  2. Ahmad N. Alodaib, Kevin Carpenter, Veronica Wiley, Tiffany Wotton, John Christodoulou, Bridget Wilcken
    Pages 1-6
  3. Mashbat Bayarchimeg, Dunia Ismail, Amanda Lam, Derek Burk, Jeremy Kirk, Wolfgang Hogler et al.
    Pages 7-11
  4. Daniel T. Swarr, Beth Kaufman, Mark A. Fogel, Richard Finkel, Jaya Ganesh
    Pages 17-20
  5. A. Vanclooster, R. Devlieger, W. Meersseman, A. Spraul, K. Vande Kerckhove, P. Vermeersch et al.
    Pages 27-33
  6. Abdel Ali Belaidi, Sita Arjune, Jose Angel Santamaria-Araujo, Jörn Oliver Sass, Guenter Schwarz
    Pages 35-43
  7. Giuseppina Marra, Paolo Gilles Vercelloni, Alberto Edefonti, Gianantonio Manzoni, Maria Angela Pavesi, Giovanni Battista Fogazzi et al.
    Pages 45-48
  8. Christineh N. Sarkissian, Alejandra Gamez, Patrick Scott, Jerome Dauvillier, Alejandro Dorenbaum, Charles R. Scriver et al.
    Pages 59-70
  9. Nigel J. Manning, Elizabeth K. Allen, Richard J. Kirk, Mark J. Sharrard, Edwin J. Smith
    Pages 71-75
  10. Y. Haimi Cohen, R. Bargal, M. Zeigler, T. Markus-Eidlitz, V. Zuri, A. Zeharia
    Pages 83-88
  11. Sahin Takci, Sibel Kadayifcilar, Turgay Coskun, Sule Yigit, Burcu Hismi
    Pages 89-93
  12. Abdallah F. Elias, Maria Ronningen Johnson, John K. Boitnott, David Valle
    Pages 95-98
  13. Z Md. Yunus, DP Abg Kamaludin, M Mamat, Y S Choy, LH Ngu
    Pages 99-107
  14. S. Balasubramaniam, Y. S. Choy, A. Talib, M. D. Norsiah, L. P. van den Heuvel, R. J. Rodenburg
    Pages 113-122
  15. Sandrine Vuillaumier-Barrot, Bertrand Isidor, Thierry Dupré, Christiane Le Bizec, Albert David, Nathalie Seta
    Pages 123-125

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.


endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

    • 1
  1. 1.c/o ACBLondonUnited Kingdom

Bibliographic information

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