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JIMD Reports

JIMD Reports - Case and Research Reports, 2012/6

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
price for USA (gross)
  • ISBN 978-3-642-35518-9
  • Digitally watermarked, DRM-free
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  • Immediate eBook download after purchase
Softcover $159.00
price for USA
  • ISBN 978-3-642-35517-2
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Rent the ebook  
  • Rental duration: 1 or 6 month
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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 (21 chapters)

  • Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

    Ostergaard, Elsebet (et al.)

    Pages 1-5

  • Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

    Siebert, Marina (et al.)

    Pages 7-16

  • Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation

    Stoop, F. J. (et al.)

    Pages 17-29

  • Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH4)

    Thiele, A. G. (et al.)

    Pages 31-40

  • Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease

    Pisani, A. (et al.)

    Pages 41-48

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-642-35518-9
  • 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 978-3-642-35517-2
  • 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 - Case and Research Reports, 2012/6
Editors
  • Johannes Zschocke
  • K Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
Series Title
JIMD Reports
Series Volume
9
Copyright
2013
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-35518-9
DOI
10.1007/978-3-642-35518-9
Softcover ISBN
978-3-642-35517-2
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VII, 145
Topics