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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...

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Detalhes bibliográficos
Main Authors: Kasim, S, Moo, L, Zschocke, J, Jinnah, H
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2001
Assuntos:
Acesso em linha: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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