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Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

BACKGROUND: Inborn errors of metabolism (IEMs) have been anecdotally reported in the literature as presenting with features of cerebral palsy (CP) or misdiagnosed as ‘atypical CP’. A significant proportion is amenable to treatment either directly targeting the underlying pathophysiology (often with...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Leach, Emma L, Shevell, Michael, Bowden, Kristin, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara DM
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4273454/
https://ncbi.nlm.nih.gov/pubmed/25433678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0197-2
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