NEUROTRANSMITTER ABNORMALITIES AND RESPONSE TO SUPPLEMENTATION IN SPG11

OBJECTIVE: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with L-dopa/carbidopa and sapropterin. DESIGN: Case reports SETTING: National Institutes of Health in the context of the Undiagnosed Disease Program; Children’s National...

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Main Authors: Vanderver, Adeline, Tonduti, Davide, Auerbach, Sarah, Schmidt, Johanna L., Parikh, Sumit, Gowans, Gordon C., Jackson, Kelly E., Brock, Pamela L., Patterson, Marc, Nehrebecky, Michelle, Godfrey, Rena, Zein, Wadih M., Gahl, William, Toro, Camilo
Formato: Artigo
Idioma:Inglês
Publicado: 2012
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3517733/
https://ncbi.nlm.nih.gov/pubmed/22749184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.05.020
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