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JIMD Reports

JIMD Reports - Case and Research Reports, 2012/2

Editors: Peters, Verena (Ed.)

  • 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
price for USA (gross)
  • ISBN 978-3-642-28096-2
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $159.00
price for USA
  • ISBN 978-3-642-28095-5
  • 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 (20 chapters)

  • Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias

    Alodaib, Ahmad N. (et al.)

    Pages 1-6

  • Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism

    Bayarchimeg, Mashbat (et al.)

    Pages 7-11

  • Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient

    Sentner, Christiaan P. (et al.)

    Pages 13-16

  • Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

    Swarr, Daniel T. (et al.)

    Pages 17-20

  • The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients

    Malinová, Věra (et al.)

    Pages 21-25

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-642-28096-2
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $159.00
price for USA
  • ISBN 978-3-642-28095-5
  • 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 - Case and Research Reports, 2012/2
Editors
  • Verena Peters
Series Title
JIMD Reports
Series Volume
5
Copyright
2012
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-28096-2
DOI
10.1007/978-3-642-28096-2
Softcover ISBN
978-3-642-28095-5
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VII, 130
Number of Illustrations and Tables
17 b/w illustrations, 19 illustrations in colour
Topics