Skip to main content
SpringerLink
Log in

JIMD Reports - Case and Research Reports, 2011/2

  • Book
  • © 2012

Overview

Editors:
  1. SSIEM

    1. c/o ACB, London, United Kingdom

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • 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: sn.pub/extras

Part of the book series: JIMD Reports (JIMD, volume 2)

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

Access this book

Log in via an institution
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

Table of contents (20 chapters)

  1. Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency

    • M. Casarano, M G. Alessandrì, G. S. Salomons, E. Moretti, C. Jakobs, K. M. Gibson et al.
    Pages 119-123
Back to top

Keywords

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)

Editors and Affiliations

  • c/o ACB, London, United Kingdom

    SSIEM

Bibliographic Information

  • Book Title: JIMD Reports - Case and Research Reports, 2011/2

  • Editors: SSIEM

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-642-24758-3

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

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

  • Softcover ISBN: 978-3-642-24757-6Published: 22 October 2011

  • eBook ISBN: 978-3-642-24758-3Published: 25 November 2011

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VII, 123

  • Number of Illustrations: 20 b/w illustrations, 11 illustrations in colour

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

  • Industry Sectors: Biotechnology, Pharma

Publish with us

Policies and ethics

Back to top

Search

Navigation