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Table of contents (47 papers)
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Front Matter
Keywords
About this book
In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.
Editors and Affiliations
Bibliographic Information
Book Title: Peroxisomal Disorders and Regulation of Genes
Editors: Frank Roels, Myriam Baes, Sylvia Bie
Series Title: Advances in Experimental Medicine and Biology
DOI: https://doi.org/10.1007/978-1-4419-9072-3
Publisher: Springer New York, NY
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eBook Packages: Springer Book Archive
Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature 2003
Hardcover ISBN: 978-0-306-48174-1Published: 31 December 2003
Softcover ISBN: 978-1-4613-4782-8Published: 13 October 2012
eBook ISBN: 978-1-4419-9072-3Published: 06 December 2012
Series ISSN: 0065-2598
Series E-ISSN: 2214-8019
Edition Number: 1
Number of Pages: XIV, 429
Topics: Human Genetics, Internal Medicine, Biochemistry, general, Neurology, Pediatrics