JIMD Reports

JIMD Reports - Volume 12

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 $109.00
price for USA (gross)
  • ISBN 978-3-319-03461-4
  • Digitally watermarked, DRM-free
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  • Immediate eBook download after purchase
Softcover $139.00
price for USA
  • ISBN 978-3-319-03460-7
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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.

Reviews

From the reviews:

“Clearly the information is unique and appropriate for clinicians involved in the care of patients with inherited metabolic disorders. This is a good source of updated information on well-established clinical phenotypes as well newly described disorders. … JIMD is unique in its inclusion of clinical reports and short research reports, which makes it very attractive to busy clinicians wishing to publish their unique cases. It is a must-have in all metabolic clinics.” (Luis F. Escobar, Doody’s Book Reviews, May, 2014)

Table of contents (20 chapters)

  • Propionic Acidemia and Optic Neuropathy: A Report of Two Cases

    Arias, Carolina (et al.)

    Pages 1-4

  • Chronic Kidney Disease in an Adult with Propionic Acidemia

    Vernon, H. J. (et al.)

    Pages 5-10

  • Transient Massive Trimethylaminuria Associated with Food Protein–Induced Enterocolitis Syndrome

    Miller, Natalie B. (et al.)

    Pages 11-15

  • Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation

    Hannah-Shmouni, Fady (et al.)

    Pages 17-23

  • Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes

    Harzer, Klaus (et al.)

    Pages 25-29

Buy this book

eBook $109.00
price for USA (gross)
  • ISBN 978-3-319-03461-4
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.00
price for USA
  • ISBN 978-3-319-03460-7
  • 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 - Volume 12
Editors
  • Johannes Zschocke
  • K Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
Series Title
JIMD Reports
Series Volume
12
Copyright
2014
Publisher
Springer International Publishing
Copyright Holder
SSIEM and Springer International Publishing Switzerland
eBook ISBN
978-3-319-03461-4
DOI
10.1007/978-3-319-03461-4
Softcover ISBN
978-3-319-03460-7
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 134
Number of Illustrations and Tables
73 b/w illustrations, 17 illustrations in colour
Topics