JIMD Reports - Volume 10

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

Part of the JIMD Reports book series (JIMD, volume 10)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Fatma A. Al-Jasmi, Nafisa Tawfig, Ans Berniah, Bassam R. Ali, Mahmoud Taleb, Jozef L. Hertecant et al.
    Pages 1-9
  3. Silke Arndt, Angela Hobbs, Iain Sinclaire, Anthony B. Lane
    Pages 11-16
  4. Adela Della Marina, Ulrike Schara, Angela Pyle, Claudia Möller-Hartmann, Elke Holinski-Feder, Angela Abicht et al.
    Pages 17-22
  5. Pranoot Tanpaiboon, Jennifer L. Sloan, Patrick F. Callahan, Dorothea McAreavey, P. Suzanne Hart, Uta Lichter-Konecki et al.
    Pages 33-38
  6. L. de Boer, L. A. J. Kluijtmans, E. Morava
    Pages 39-40
  7. Armin Finkenstedt, Melanie Schranz, Sylvia Bösch, Daniela Karall, Sabine Scholl Bürgi, Christian Ensinger et al.
    Pages 41-44
  8. Fiona M. Lewis, David J. Coman, Maryann Syrmis, Sarah Kilcoyne, Bruce E. Murdoch
    Pages 45-52
  9. Curtis R. Coughlin II, Keith Hyland, Rebecca Randall, Can Ficicioglu
    Pages 53-56
  10. Madeleine E. Sharp, Cornelia Laule, Stephen Nantel, Burkhard Mädler, Ritu B. Aul, Samuel Yip et al.
    Pages 57-59
  11. Laura López-Marín, Luis G. Gutiérrez-Solana, Luis Aldamiz-Echevarria Azuara, Rogelio Simón de las Heras, Anna Duat Rodríguez, Verónica Cantarín Extremera
    Pages 61-68
  12. James T. Bennett, Kathleen B. Schwarz, Phillip D. Swanson, Si Houn Hahn
    Pages 79-82
  13. S. Rubin, A. L. Le Piffer, M. B. Rougier, M. N. Delyfer, J. F. Korobelnik, I. Redonnet-Vernhet et al.
    Pages 83-85
  14. L. Schroeder, P. Orchard, C. B. Whitley, J. M. Berry, J. Tolar, W. Miller et al.
    Pages 87-94
  15. Masashi Morita, Junpei Kobayashi, Kozue Yamazaki, Kosuke Kawaguchi, Ayako Honda, Kenji Sugai et al.
    Pages 95-102
  16. Malcolm Proudfoot, Philip Jardine, Agne Straukiene, Rupert Noad, Andrew Parrish, Sian Ellard et al.
    Pages 103-106
  17. Pratibha Singhi, Linda De Meirleir, Willy Lissens, Sunit Singhi, Arushi Gahlot Saini
    Pages 107-111
  18. Michel Tchan, M. Westbrook, G. Wilcox, R. Cutler, N. Smith, R. Penman et al.
    Pages 113-117 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.Washington State University, Clinical Pharmacology UnitDivision of Health SciencesSpokaneUSA
  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/10.1007/978-3-642-37334-3
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2013
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-37333-6
  • Online ISBN 978-3-642-37334-3
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book