JIMD Reports

JIMD Reports - Case and Research Reports, 2012/4

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 978-3-642-32442-0
  • 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 978-3-642-32441-3
  • 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 (20 chapters)

  • Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency

    Diekman, Eugène F. (et al.)

    Pages 1-6

  • Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?

    Moura, Carla Pinto (et al.)

    Pages 7-12

  • Hereditary Intrinsic Factor Deficiency in Chaldeans

    Sturm, Amy C. (et al.)

    Pages 13-18

  • Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

    Sentner, Christiaan P (et al.)

    Pages 19-26

  • Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

    Morris, A A M (et al.)

    Pages 27-29

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-642-32442-0
  • 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 978-3-642-32441-3
  • 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, 2012/4
Editors
  • Johannes Zschocke
  • K Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
Series Title
JIMD Reports
Series Volume
7
Copyright
2013
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-32442-0
DOI
10.1007/978-3-642-32442-0
Softcover ISBN
978-3-642-32441-3
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VII, 128
Number of Illustrations and Tables
21 b/w illustrations, 7 illustrations in colour
Topics