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JIMD Reports - Volume 12

  • Book
  • © 2014

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Overview

  • 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 12)

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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.

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Keywords

Table of contents (20 chapters)

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)

Editors and Affiliations

  • Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  • College of Pharmacy, Washington State University Clinical Pharmacology, Pullman, USA

    K Michael Gibson

  • Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

    Garry Brown

  • Department of Pediatrics IGMD, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

    Eva Morava

  • Center for Child and Adolescent Medicine Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Bibliographic Information

  • Book Title: JIMD Reports - Volume 12

  • Editors: Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-319-03461-4

  • Publisher: Springer Cham

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: SSIEM and Springer International Publishing Switzerland 2014

  • Softcover ISBN: 978-3-319-03460-7Published: 30 January 2014

  • eBook ISBN: 978-3-319-03461-4Published: 08 July 2014

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 134

  • Number of Illustrations: 73 b/w illustrations, 17 illustrations in colour

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

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