Phenylketonuria Presenting an Intermittent Progressive Course.
نویسندگان
چکیده
منابع مشابه
Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia.
A 57 year old woman living independently in the community presented with four years of progressive spastic paraparesis and dementia. An extensive evaluation for the usual causes of these difficulties was unrevealing, but her serum phenylalanine concentration was markedly elevated and genetic analysis demonstrated mutations in the phenylalanine hydroxylase gene consistent with classic phenylketo...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 28 شماره
صفحات -
تاریخ انتشار 1965