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Studies in Inherited Metabolic Disease - Prenatal and Perinatal Diagnosis (Paperback, Softcover reprint of the original 1st ed. 1989)
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Studies in Inherited Metabolic Disease - Prenatal and Perinatal Diagnosis (Paperback, Softcover reprint of the original 1st ed. 1989)
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With improved control of most environmental causes of disease,
genetic illness has assumed a primary importance in the causation
of handicap and mortality in all age groups. At present, effective
therapy is available for relatively few genetic conditions and
prenatal diagnosis is an important option for couples at high risk.
The task of providing prenatal diagnosis for these couples requires
a team approach between clinicians and scientists, and is
complicated by the large number of diverse conditions and by the
rapid developments in the field, both obstetric in relation to
imaging and tissue sampling methods and genetic in relation to
techniques for analysis. Against this background, the aim of the
Symposium was to provide an overview of the current status of
prenatal and perinatal diagnosis of inborn errors of metabolism.
The format consisted of the usual mixture of specific invited
overviews and free communications in either oral or poster form.
The invited overviews, as can be seen from this publication,
covered a wide range, from accepted methods for neonatal diagnosis
and screening to newer techniques for prenatal diagnosis and likely
future developments with respect to gene therapy. Similarly, the
oral com munications included reviews of experience with
biochemical analysis of chorionic villus sampling from major
centres, more specific examples of progress towards the basic
defect in Batten's disease and Canavan's disease, and prospects for
effective therapy in Menkes' disease and a lipid myopathy."
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