Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine ‘transportopathy’ to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transp...

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Detalhes bibliográficos
Main Authors: Ng, Joanne, Zhen, Juan, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian, Rider, Nicholas L., Holmes Morton, D., Strauss, Kevin A., Puffenberger, Erik G., D’Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo, Borck, Guntram, Reith, Maarten E. A., Kurian, Manju A.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3959557/
https://ncbi.nlm.nih.gov/pubmed/24613933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu022
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