JIMD Reports

JIMD Reports - Volume 11

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
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  • ISBN 978-3-642-37328-2
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Softcover $139.00
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  • ISBN 978-3-642-37327-5
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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 (22 chapters)

  • Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment

    Vairo, Filippo (et al.)

    Pages 1-6

  • Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency

    Rodan, Lance Harrington (et al.)

    Pages 7-11

  • A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

    Searle, Claire (et al.)

    Pages 13-16

  • Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures

    Belachew, Dina (et al.)

    Pages 17-24

  • Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia

    Silva, E. Santos (et al.)

    Pages 25-30

Buy this book

eBook $109.00
price for USA (gross)
  • ISBN 978-3-642-37328-2
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.00
price for USA
  • ISBN 978-3-642-37327-5
  • 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 11
Editors
  • Johannes Zschocke
  • K Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
Series Title
JIMD Reports
Series Volume
11
Copyright
2013
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-37328-2
DOI
10.1007/978-3-642-37328-2
Softcover ISBN
978-3-642-37327-5
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VII, 172
Number of Illustrations and Tables
23 b/w illustrations, 24 illustrations in colour
Topics