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Screening and management of potentially treatable genetic metabolic disorders - Proceeding of the Workshop held in London, March 17-18, 1983 (Hardcover, 1984 ed.)
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Screening and management of potentially treatable genetic metabolic disorders - Proceeding of the Workshop held in London, March 17-18, 1983 (Hardcover, 1984 ed.)
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Total price: R4,406
Discovery Miles: 44 060
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1 The success of early diagnosis and therefore of treatment of phe
nylketonuria, inevitably suggests the possibility of early
screening and treatment of other genetic metabolic abnormalities.
This volume contains a summary of papers delivered at a Workshop on
"Recent Advances in Screening and Management of Potentially Trea
table Genetic Metabolic Disorders" held under the auspices of the
Com mission of the European Communi ties, in London, U. K., on the
17th and 18th March 1983 to consider such possibilities. The
Workshop was not aimed at those disorders for which the prin ciples
of treatment and management have been soundly established, or for
which screening procedures are in general use. The papers therefore
do not form a comprehensive account of metabolic disorders. The
topics for discussion were selected mainly to highlight recent
discoveries which might be exploited by concerted approaches
between different cen tres, especially when the immediate benefits
were restricted to only a few centres. Recent reports suggest that
about 2% of infants with persistent hyperphenylaninaemia do not
respond to treatment by phenylalanine - low diets, and develop
severe brain damage. Infants with such "Malignant
Hyperphenylalaninaemia" due to one of several genetic causes of
tetrahy drobiopterin deficiency should be rapidly identi fied since
there is evidence that appropriate treatment will prevent brain
damage. The Workshop considered how appropriate screening could be
made generally available."
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