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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Table of contents (20 chapters)
Keywords
About this book
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
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