Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

Objective. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as well as motor manifestations that include speec...

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Detalhes bibliográficos
Publicado no:Case Rep Neurol Med
Main Authors: Christou, Yiolanda-Panayiota, Tanteles, George A., Kkolou, Elena, Ormiston, Annita, Konstantopoulos, Kostas, Beconi, Maria, Marshall, Randall D., Plotkin, Horacio, Kleopa, Kleopas A.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5439260/
https://ncbi.nlm.nih.gov/pubmed/28567317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/3247034
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