JIMD Reports

JIMD Reports - Volume 10

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 $119.00
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  • ISBN 978-3-642-37334-3
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Softcover $159.00
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  • ISBN 978-3-642-37333-6
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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 (20 chapters)

  • Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

    Al-Jasmi, Fatma A. (et al.)

    Pages 1-9

  • Chitotriosidase Deficiency: A Mutation Update in an African Population

    Arndt, Silke (et al.)

    Pages 11-16

  • NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

    Marina, Adela Della (et al.)

    Pages 17-22

  • Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria

    Douglas, Teresa D. (et al.)

    Pages 23-31

  • Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

    Tanpaiboon, Pranoot (et al.)

    Pages 33-38

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-642-37334-3
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $159.00
price for USA
  • ISBN 978-3-642-37333-6
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Rent the ebook  
  • Rental duration: 1 or 6 month
  • low-cost access
  • online reader with highlighting and note-making option
  • can be used across all devices
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Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports - Volume 10
Editors
  • Johannes Zschocke
  • K Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
Series Title
JIMD Reports
Series Volume
10
Copyright
2013
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-37334-3
DOI
10.1007/978-3-642-37334-3
Softcover ISBN
978-3-642-37333-6
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 123
Number of Illustrations and Tables
14 b/w illustrations, 14 illustrations in colour
Topics