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A report of a child with hyperprolinaemia, convulsions and mental retardation is presented. A sibling of this child with no obvious abnormality was also shown to have hyperprolinaemia. A second sibling, the parents and eleven other relatives were all shown to have normal plasma proline levels....
Five spot tests applied to urine dried on paper were assessed for their value in screening young babies for treatable inborn metabolic errors. Experiments with standards showed that the spot tests have a sensitivity adequate to detect several metabolic disorders, most of which were shown to be...
A comprehensive study of comparative legal provisions relating to the mentally retarded is outside the scope of this paper. In the limited time available, it is proposed to concentrate upon legislative trends in Australia and to make some references to statutory provisions in other parts of the...
Hereditary enzyme defects leading to significant metabolic abnormalities are being described in increasing profusion. Many of these metabolic errors result in disturbed cerebral development and function.
This paper deals with the issue of early detection of the mentally retarded, from the developmental diagnosis viewpoint. An account is presented of experiences with a small group of children originally referred to an outpatient clinic for the intellectually handicapped before the age of 2 years...
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