© 2015

JIMD Reports, Volume 15

  • Johannes Zschocke
  • K. Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
  • 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 15)

Table of contents

  1. Front Matter
    Pages i-vi
  2. James J Pitt, Frank Willis, Nicholas Tzanakos, Ruth Belostotsky, Yaacov Frishberg
    Pages 1-6
  3. Anne Roubergue, Bertrand Philibert, Agnès Gautier, Alice Kuster, Karine Markowicz, Thierry Billette de Villemeur et al.
    Pages 7-12
  4. Sanne van Dongen, Ruth M. Brown, Garry K. Brown, David R. Thorburn, Avihu Boneh
    Pages 13-27
  5. Kelly D. Farwell Gonzalez, Xiang Li, Hsiao-Mei Lu, Hong Lu, Joan E. Pellegrino, Ryan T. Miller et al.
    Pages 29-37
  6. Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, Cristiana Artiola, André B. P. van Kuilenburg, Carla Carducci et al.
    Pages 39-45
  7. Clara D. M. van Karnebeek, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, Birgit Assmann, Peter Baxter, Daniela Buhas et al.
    Pages 47-57
  8. Christine Lavery, Chris Hendriksz
    Pages 59-66
  9. Erin R. McNamara, Jennifer Sullivan, Shashi K. Nagaraj, John S. Wiener, Priya S. Kishnani
    Pages 67-70
  10. Daria Diodato, Federica Invernizzi, Eleonora Lamantea, Gigliola Fagiolari, Rossella Parini, Francesca Menni et al.
    Pages 71-78
  11. Brook M. Pyhtila, Kelly A. Shaw, Samantha E. Neumann, Judith L. Fridovich-Keil
    Pages 79-93
  12. Elena Fridman, Avraham Zeharia, Tal Markus-Eidlitz, Yishai Haimi Cohen
    Pages 95-104
  13. Clara van Karnebeek, Gabriella Horvath, Tyler Murphy, Jacqueline Purtzki, Kristin Bowden, Sandra Sirrs et al.
    Pages 113-116
  14. Olivier Lidove, Frédéric Sedel, Frédéric Charlotte, Roseline Froissart, Marie T. Vanier
    Pages 117-121
  15. Paulina Nieves Cobos, Cordula Steglich, René Santer, Zoltan Lukacs, Andreas Gal
    Pages 123-132
  16. Brook M. Pyhtila, Kelly A. Shaw, Samantha E. Neumann, Judith L. Fridovich-Keil
    Pages 133-133

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 metabolic disease

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 Sciences,Clinical Pharamacology UnitSpokaneUSA
  3. 3.Department of Biochemistry Genetics UnitUniversity of OxfordOxfordUnited Kingdom
  4. 4.Tulane University Medical SchoolNew OrleansUSA
  5. 5.Center for Child and Adolescent Medicine, Heidelberg University HospitalHeidelbergGermany

Bibliographic information

  • Book Title JIMD Reports, Volume 15
  • Editors Johannes Zschocke
    K. Michael Gibson
    Garry Brown
    Eva Morava
    Verena Peters
  • Series Title JIMD Reports
  • Series Abbreviated Title JIMD Reports
  • DOI
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2015
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Softcover ISBN 978-3-662-43750-6
  • eBook ISBN 978-3-662-43751-3
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VIII, 139
  • Number of Illustrations 30 b/w illustrations, 0 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Human Physiology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals