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Table of contents (16 chapters)
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Front Matter
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Back Matter
About this book
Progress in our understanding of these conditions, and their diagnosis, results from the application of a variety of laboratory investigations. These include microscopic studies, analysis of metabolites (very long-chain fatty acids, bile acids, and plasmalogens), enzyme studies (peroxisomal beta-oxidation pathway and dihydroxyacetone phosphate acyltransferase), immunodetection of peroxisomal (membrane) proteins and molecular analysis of mutant DNA.
In order to encourage a greater awareness in this field and the diagnostic protocols required, an international course was organised in Gent, Belgium, in May 1994, on the clinical and biochemical diagnosis of peroxisomal disorders. A number of international experts in the field who provided intensive hands-on experience over 3.5 days, have now collected their course work and reviews together in this Handbook. The volume is introduced by Sidney Goldfischer, who in 1973 was the first to recognise the absence of peroxisomes in Zellweger syndrome, but whose observations were not fully appreciated for a further decade. This handbook provides the most comprehensive and detailed account of laboratory methods for the diagnosis of peroxisomal disorders. The methods are clearly presented and well illustrated, and should allow laboratories to introduce these methods into their repertoire.
Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders.
Editors and Affiliations
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Faculty of Medicine and University Hospital, University of Gent, Belgium
Frank Roels
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Center for Medical Genetics, University Hospital, Gent, Belgium
Sylvia Bie
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Departments of Pediatrics and Obstetrics and Gynaecology, University Hospital of the University of Amsterdam, The Netherlands
Ruud B. H. Schutgens
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Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK
Guy T. N. Besley
Bibliographic Information
Book Title: Diagnosis of human peroxisomal disorders
Book Subtitle: A handbook
Editors: Frank Roels, Sylvia Bie, Ruud B. H. Schutgens, Guy T. N. Besley
DOI: https://doi.org/10.1007/978-94-011-9635-2
Publisher: Springer Dordrecht
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eBook Packages: Springer Book Archive
Copyright Information: Springer Science+Business Media Dordrecht 1995
Softcover ISBN: 978-0-7923-3855-0Published: 31 January 1997
eBook ISBN: 978-94-011-9635-2Published: 29 June 2013
Edition Number: 1
Number of Pages: V, 226
Number of Illustrations: 85 b/w illustrations
Topics: Internal Medicine