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- catalog abstract "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.".
- catalog contributor b13076668.
- catalog contributor b13076669.
- catalog contributor b13076670.
- catalog created "c2003.".
- catalog date "2003".
- catalog date "c2003.".
- catalog dateCopyrighted "c2003.".
- catalog description "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.".
- catalog description "Includes bibliographical references and index.".
- catalog extent "xiv, 429 p. :".
- catalog identifier "030648174X".
- catalog isPartOf "Advances in experimental medicine and biology ; v. 544".
- catalog issued "2003".
- catalog issued "c2003.".
- catalog language "eng".
- catalog publisher "New York : Kluwer Academic/Plenum Publishers,".
- catalog subject "571.6/55 22".
- catalog subject "Gene Expression Regulation Congresses.".
- catalog subject "Gene Expression Regulation.".
- catalog subject "Gene expression.".
- catalog subject "Peroxisomal Disorders genetics Congresses.".
- catalog subject "Peroxisomal Disorders genetics.".
- catalog subject "Peroxisomes.".
- catalog subject "QH603.P47 P47 2004".
- catalog subject "W1 AD559 v.544 2003".
- catalog subject "WD 205.5.L5 I63p 2003".
- catalog title "Peroxisomal disorders and regulation of genes / edited by Frank Roels, Myriam Baes, and Sylvia De Bie.".
- catalog type "text".