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Phenylketonuria (PKU; OMIM 261600) is an autosomal recessive inborn error of phenylanaline metabolism. PKU is characterized
by deficient or defective phenylalanine hydroxylase activity and persistantly increased levels of the essential amino acid
phenylalanine in the circulation. The present article examines current understanding of the etiology of PKU, along with a
meta-analysis examining neuropsychological and intellectual presentations in continuously treated adolescents and adults.
Patients with PKU differed significantly from controls on Full-Scale IQ, processing speed, attention, inhibition, and motor
control. Future research utilizing an integrative approach and detailed analysis of specific cognitive domains will assist
both the scientist and clinician, and ultimately the patient. 相似文献
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