JIMD Reports

JIMD Reports - Case and Research Reports, 2012/1

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 978-3-642-25752-0
  • 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 978-3-642-25751-3
  • 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)

  • Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing

    Paull, Lindsay S. (et al.)

    Pages 1-4

  • Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients

    Greef, Elisabeth (et al.)

    Pages 5-11

  • Glycine and l-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients

    Villar, Cristina (et al.)

    Pages 13-16

  • Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

    Paracchini, Valentina (et al.)

    Pages 17-23

  • Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome

    Buda, Piotr (et al.)

    Pages 25-28

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-642-25752-0
  • 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 978-3-642-25751-3
  • 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, 2012/1
Editors
  • SSIEM
Series Title
JIMD Reports
Series Volume
4
Copyright
2012
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-25752-0
DOI
10.1007/978-3-642-25752-0
Softcover ISBN
978-3-642-25751-3
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VII, 137
Number of Illustrations and Tables
24 b/w illustrations, 18 illustrations in colour
Topics