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Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

BACKGROUND: Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic cri...

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Detalles Bibliográficos
Autores principales: Boy, Nikolas, Heringer, Jana, Brackmann, Renate, Bodamer, Olaf, Seitz, Angelika, Kölker, Stefan, Harting, Inga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402644/
https://www.ncbi.nlm.nih.gov/pubmed/28438223
http://dx.doi.org/10.1186/s13023-017-0612-6