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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 analysi...

詳細記述

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書誌詳細
主要な著者: Kasim, S, Moo, L, Zschocke, J, Jinnah, H
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2001
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1737627/
https://ncbi.nlm.nih.gov/pubmed/11723206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.71.6.795
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