JIMD Reports

JIMD Reports - Case and Research Reports, 2011/2

Editors: SSIEM (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 978-3-642-24758-3
  • 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 978-3-642-24757-6
  • 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
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.

Reviews

From the reviews:

“This is a collection of case reports and short research reports regarding various inborn errors of metabolism with a focus on new or unusual features, outcomes of therapy, or screening. … the book is designed for highly specialized practitioners in the field of genetics or metabolic disorders. … The book does fulfill its purpose, but the audience is … geneticists and those specializing in each of these rare disorders.” (Christine Yu, Doody’s Review Service, March, 2012)

Table of contents (20 chapters)

  • Phenotype–Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene

    Angel, Ariadna González-del (et al.)

    Pages 1-5

  • Cardiac Arrest in Kearns–Sayre Syndrome

    Beynum, Ingrid (et al.)

    Pages 7-10

  • Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report

    Markic, Josko (et al.)

    Pages 11-15

  • Carpal Tunnel Syndrome in Fabry Disease

    Ghali, Joanna (et al.)

    Pages 17-23

  • A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene

    Kilic, M. (et al.)

    Pages 25-28

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-642-24758-3
  • 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 978-3-642-24757-6
  • 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, 2011/2
Editors
  • SSIEM
Series Title
JIMD Reports
Series Volume
2
Copyright
2012
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-24758-3
DOI
10.1007/978-3-642-24758-3
Softcover ISBN
978-3-642-24757-6
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VII, 123
Number of Illustrations and Tables
20 b/w illustrations, 11 illustrations in colour
Topics