JIMD Reports

JIMD Reports - Case and Research Reports, 2011/3

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
see more benefits

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-642-24936-5
  • 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 978-3-642-24935-8
  • 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.

Table of contents (20 chapters)

  • Liver Failure with Coagulopathy, Hyperammonemia and Cyclic Vomiting in a Toddler Revealed to Have Combined Heterozygosity for Genes Involved with Ornithine Transcarbamylase Deficiency and Wilson Disease

    Mira, Valerie (et al.)

    Pages 1-3

  • Large Mitochondrial DNA Deletion in an Infant with Addison Disease

    Duran, Gloria P. (et al.)

    Pages 5-9

  • Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark

    Borch, Luise (et al.)

    Pages 11-15

  • Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

    Kilic, M. (et al.)

    Pages 17-23

  • Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency

    Barth, M. (et al.)

    Pages 25-32

Buy this book

eBook $119.00
price for USA (gross)
  • ISBN 978-3-642-24936-5
  • 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 978-3-642-24935-8
  • 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
Loading...

Recommended for you

Loading...

Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports - Case and Research Reports, 2011/3
Editors
  • SSIEM
Series Title
JIMD Reports
Series Volume
3
Copyright
2012
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-642-24936-5
DOI
10.1007/978-3-642-24936-5
Softcover ISBN
978-3-642-24935-8
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VII, 139
Number of Illustrations and Tables
24 b/w illustrations, 13 illustrations in colour
Topics