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JIMD Reports, Volume 14

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

Part of the JIMD Reports book series (JIMD, volume 14)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Alessandra Zanetti, Neslihan Önenli-Mungan, Nursel Elcioglu, Mehmet Nuri Özbek, Deniz Kör, Elisabetta Lenzini et al.
    Pages 1-9
  3. Matthew A. Lines, Stacy Hewson, William Halliday, Peter J. B. Sabatini, Tracy Stockley, Anne I. Dipchand et al.
    Pages 11-16
  4. Anne Davit-Spraul, Marine Beinat, Dominique Debray, Agnes Rötig, Abdelhamid Slama, Emmanuel Jacquemin
    Pages 17-21
  5. G J G Ruijter, D A Goudriaan, A M Boer, J Van den Bosch, A T Van der Ploeg, L H Elvers et al.
    Pages 23-27
  6. Mariella Simon, Richard C. Chang, Deeksha S. Bali, Lee-Jun Wong, Ying Peng, Jose E. Abdenur
    Pages 29-35
  7. Divair Doneda, Filippo P. Vairo, André L. Lopes, Álvaro Reischak-Oliveira, Pedro Schestatsky, Marino M. Bianchin et al.
    Pages 37-42
  8. Annalisa Sechi, Laura Deroma, Sabrina Paci, Annunziata Lapolla, Francesca Carubbi, Alberto Burlina et al.
    Pages 47-53
  9. Gladys Ho, Ian Alexander, Kaustuv Bhattacharya, Barbara Dennison, Carolyn Ellaway, Sue Thompson et al.
    Pages 55-65
  10. Tadahiko Kubo, Shoji Shimose, Jun Fujimori, Ryo Shimizu, Mitsuo Ochi
    Pages 67-70
  11. Marni J. Falk, Dong Li, Xiaowu Gai, Elizabeth McCormick, Emily Place, Francesco M. Lasorsa et al.
    Pages 77-85
  12. Neveen A. Soliman, Mohamed A. Elmonem, Lambertus van den Heuvel, Rehab H. Abdel Hamid, Mohamed Gamal, Inge Bongaers et al.
    Pages 87-97
  13. Christina Lampe, Andrea Atherton, Barbara K. Burton, Maria Descartes, Roberto Giugliani, Dafne D. G. Horovitz et al.
    Pages 99-113
  14. Genki Sugita, Hideaki Tsuyoshi, Koji Nishijima, Yoshio Yoshida
    Pages 115-118
  15. Marni J. Falk, Dong Li, Xiaowu Gai, Elizabeth McCormick, Emily Place, Francesco M. Lasorsa et al.
    Pages 119-119

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.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  2. 2.WSU Division of Health SciencesSpokaneUSA
  3. 3.Department of Biochemistry Genetics UnitUniversity of OxfordOxfordUnited Kingdom
  4. 4.Tulane University Medical SchoolNew OrleansUSA
  5. 5.HeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-43748-3
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2014
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-662-43747-6
  • Online ISBN 978-3-662-43748-3
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site