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JIMD Reports

JIMD Reports, Volume 36

Editors: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (Eds.)

  • Unique collection of case and research reports on rare metabolic disordersContains unusual or previously unrecorded features relevant to metabolic disorders
  • All contributions rigorously peer-reviewed
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eBook $129.00
price for USA in USD (gross)
  • ISBN 978-3-662-56138-6
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $169.99
price for USA in USD
  • ISBN 978-3-662-56137-9
  • 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.

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Table of contents (15 chapters)

  • False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency

    Stuhrman, Grace (et al.)

    Pages 1-5

  • Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach

    Koene, Saskia (et al.)

    Pages 7-17

  • Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C

    Benussi, Alberto (et al.)

    Pages 19-27

  • Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS

    Nørmark, Mette Borch (et al.)

    Pages 29-33

  • Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

    Rasmussen, Jan (et al.)

    Pages 35-40

Buy this book

eBook $129.00
price for USA in USD (gross)
  • ISBN 978-3-662-56138-6
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $169.99
price for USA in USD
  • ISBN 978-3-662-56137-9
  • 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 36
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
36
Copyright
2017
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Society for the Study of Inborn Errors of Metabolism (SSIEM)
eBook ISBN
978-3-662-56138-6
DOI
10.1007/978-3-662-56138-6
Softcover ISBN
978-3-662-56137-9
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 120
Number of Illustrations and Tables
9 b/w illustrations, 11 illustrations in colour
Topics