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Books > Medicine > Clinical & internal medicine > Paediatric medicine
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Peroxisomal Disorders and Regulation of Genes (Paperback, Softcover reprint of the original 1st ed. 2003)
Loot Price: R4,424
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Peroxisomal Disorders and Regulation of Genes (Paperback, Softcover reprint of the original 1st ed. 2003)
Series: Advances in Experimental Medicine and Biology, 544
Expected to ship within 10 - 15 working days
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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.
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