A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect

Cobalamin C is a rare inborn disorder of metabolism that results in multisystemic abnormalities, including progressive visual deficits. Although the cellular pathophysiology of cblC is a field of active study, little attention has been dedicated to documenting the cognitive consequences of the defec...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Bellerose, Jenny, Neugnot-Cerioli, Mathilde, Bédard, Karine, Brunel-Guitton, Catherine, Mitchell, Grant A., Ospina, Luis H., Beauchamp, Miriam H.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059201/
https://ncbi.nlm.nih.gov/pubmed/26608391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_517
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