JIMD Reports

JIMD Reports Volume 16

Editors: Zschocke, J., Gibson, K.M., Brown, G., Morava, E., Peters, V. (Eds.)

  • 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
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eBook $109.00
price for USA (gross)
  • ISBN 978-3-662-44587-7
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.00
price for USA
  • ISBN 978-3-662-44586-0
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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.

Table of contents (15 chapters)

  • Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect

    Wortmann, Saskia B. (et al.)

    Pages 1-6

  • Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta

    Juan, Politei (et al.)

    Pages 7-14

  • Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII

    Shimada, Tsutomu (et al.)

    Pages 15-24

  • Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis

    Besouw, M. (et al.)

    Pages 25-30

  • Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease

    Barrett, M. J. (et al.)

    Pages 31-38

Buy this book

eBook $109.00
price for USA (gross)
  • ISBN 978-3-662-44587-7
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.00
price for USA
  • ISBN 978-3-662-44586-0
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports Volume 16
Editors
  • Johannes Zschocke
  • K. Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
Series Title
JIMD Reports
Series Volume
16
Copyright
2014
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-44587-7
DOI
10.1007/978-3-662-44587-7
Softcover ISBN
978-3-662-44586-0
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 111
Number of Illustrations and Tables
22 b/w illustrations, 12 illustrations in colour
Topics