Skip to main content

JIMD Reports - Case and Research Reports, 2012/3

  • Book
  • © 2012


  • 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
  • Includes supplementary material:

Part of the book series: JIMD Reports (JIMD, volume 6)

This is a preview of subscription content, log in via an institution to check access.

Access this book

eBook USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

Licence this eBook for your library

Institutional subscriptions

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.

Similar content being viewed by others


Table of contents (20 chapters)

Editors and Affiliations

  • c/o ACB, London, United Kingdom


Bibliographic Information

  • Book Title: JIMD Reports - Case and Research Reports, 2012/3

  • Editors: SSIEM

  • Series Title: JIMD Reports

  • DOI:

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: SSIEM and Springer-Verlag Berlin Heidelberg 2012

  • Softcover ISBN: 978-3-642-28128-0Published: 11 May 2012

  • eBook ISBN: 978-3-642-28129-7Published: 10 May 2012

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VII, 129

  • Number of Illustrations: 9 b/w illustrations, 16 illustrations in colour

  • Topics: Human Genetics, Metabolic Diseases, Pediatrics, Human Physiology

Publish with us