JIMD Reports

JIMD Reports - Case and Research Reports, 2011/1

Editors: SSIEM (Ed.)

  • Unique collection of case and research reports on rare metabolic
  • 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 978-3-642-17708-8
  • 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 978-3-642-17707-1
  • 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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  • online reader with highlighting and note-making option
  • can be used across all devices
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)

  • Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors

    Andersen, Janice (et al.)

    Pages 1-7

  • Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians

    Coman, David J. (et al.)

    Pages 9-15

  • Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

    Dursun, A. (et al.)

    Pages 17-21

  • Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1

    Galletti, Silvia (et al.)

    Pages 23-27

  • Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders

    Grønborg, Sabine (et al.)

    Pages 29-36

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-642-17708-8
  • 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 978-3-642-17707-1
  • 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, 2011/1
Editors
  • SSIEM
Series Title
JIMD Reports
Series Volume
1
Copyright
2011
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-17708-8
DOI
10.1007/978-3-642-17708-8
Softcover ISBN
978-3-642-17707-1
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 136
Number of Illustrations and Tables
18 b/w illustrations, 9 illustrations in colour
Topics