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© 2013

JIMD Reports - Case and Research Reports, 2012/4

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

Part of the JIMD Reports book series (JIMD, volume 7)

Table of contents

  1. Front Matter
    Pages i-vii
  2. Eugène F. Diekman, Carolien C. A. Boelen, Berthil H. C. M. T. Prinsen, Lodewijk IJlst, Marinus Duran, Tom J. de Koning et al.
    Pages 1-6
  3. Carla Pinto Moura, Carlos Soares, Daniela Seixas, Margarida Ayres-Bastos, João Paulo Oliveira
    Pages 7-12
  4. Amy C. Sturm, Elizabeth C. Baack, Michael B. Armstrong, Deborah Schiff, Ayesha Zia, Sureyya Savasan et al.
    Pages 13-18
  5. A A M Morris, S E Olpin, M J Bennett, A Santani, J Stahlschmidt, P McClean
    Pages 27-29
  6. Fabiane Lopes Oliveira, Taciane Alegra, Alicia Dornelles, Bárbara Corrêa Krug, Cristina B. O. Netto, Neusa Sica da Rocha et al.
    Pages 31-37
  7. Mónica Yasmín Niño, Heidi Eliana Mateus, Dora Janeth Fonseca, Marian A. Kroos, Sandra Yaneth Ospina, Juan Fernando Mejía et al.
    Pages 39-48
  8. J. H. Paul Wilson, Maarten Sinaasappel, Fred K. Lotgering, Janneke G. Langendonk
    Pages 59-62
  9. M. Al-Owain, N. Kaya, H. Al-Shamrani, A. Al-Bakheet, A. Qari, S. Al-Muaigl et al.
    Pages 63-66
  10. Vincenzo Leuzzi, Claudia Carducci, Flavia Chiarotti, Daniela D’Agnano, Maria Teresa Giannini, Italo Antonozzi et al.
    Pages 67-75
  11. Tereza Moore, Jonathan A. Bernstein, Sylvie Casson-Parkin, Tina M. Cowan
    Pages 77-79
  12. Aneal Khan, Zachary Weinstein, David A. Hanley, Robin Casey, Colleen McNeil, Barbara Ramage et al.
    Pages 81-88
  13. Ying Liu, Kristi Bentler, Bradford Coffee, Juliet S. Chhay, Kyriakie Sarafoglou, Judith L. Fridovich-Keil
    Pages 89-98
  14. Markus Niemann, Arndt Rolfs, Anne Giese, Hermann Mascher, Frank Breunig, Georg Ertl et al.
    Pages 99-102
  15. Katja M J Heitink-Pollé, Berthil H. C. M. T. Prinsen, Tom J de Koning, Peter M van Hasselt, Marc B Bierings
    Pages 103-108
  16. Ingrid Wiig, Kristina Motzfeldt, Elin Bjørge Løken, Bengt Frode Kase
    Pages 109-116
  17. Laura Deroma, Annalisa Sechi, Andrea Dardis, Daniela Macor, Giulia Liva, Giovanni Ciana et al.
    Pages 117-122

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

  • Garry Brown
    • 1
  • Eva Morava
    • 2
  • Verena Peters
    • 3
  • K Michael Gibson
    • 4
  • Johannes Zschocke
    • 5
  1. 1., Department of BiochemistryUniversity of OxfordOxfordUnited Kingdom
  2. 2.Medical Center, Department of PediatricsRadboud University NijmegenNijmegenNetherlands
  3. 3.Heidelberg University HospitalCenter for Child and Adolescent MedicineHeidelbergGermany
  4. 4.Biological SciencesMichigan Technological UniversityHoughtonUSA
  5. 5.Division of Human GeneticsMedical University InnsbruckInnsbruckAT

Bibliographic information

  • Book Title JIMD Reports - Case and Research Reports, 2012/4
  • Editors Johannes Zschocke
    K Michael Gibson
    Garry Brown
    Eva Morava
    Verena Peters
  • Series Title JIMD Reports
  • Series Abbreviated Title JIMD Reports
  • DOI https://doi.org/10.1007/978-3-642-32442-0
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2013
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Softcover ISBN 978-3-642-32441-3
  • eBook ISBN 978-3-642-32442-0
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VII, 128
  • Number of Illustrations 21 b/w illustrations, 7 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Pediatrics
    Human Physiology
  • Buy this book on publisher's site
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