JIMD Reports

JIMD Reports - Case and Research Reports, 2012/3

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 978-3-642-28129-7
  • 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 978-3-642-28128-0
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Rent the ebook  
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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)

  • Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis

    Nakagawa, Sachiko (et al.)

    Pages 1-6

  • A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

    Fontaine, Monique (et al.)

    Pages 7-14

  • Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome

    Schwoerer, Jessica A. Scott (et al.)

    Pages 15-20

  • Dihydropyrimidinase Deficiency: The First Feline Case of Dihydropyrimidinuria with Clinical and Molecular Findings

    Chang, Hye-Sook (et al.)

    Pages 21-26

  • Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

    Laróvere, Laura E. (et al.)

    Pages 27-29

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-642-28129-7
  • 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 978-3-642-28128-0
  • 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, 2012/3
Editors
  • Verena Peters
Series Title
JIMD Reports
Series Volume
6
Copyright
2012
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-28129-7
DOI
10.1007/978-3-642-28129-7
Softcover ISBN
978-3-642-28128-0
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VII, 129
Number of Illustrations and Tables
9 b/w illustrations, 16 illustrations in colour
Topics