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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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Pubblicato in:Orphanet J Rare Dis
Autori principali: Boy, Nikolas, Heringer, Jana, Brackmann, Renate, Bodamer, Olaf, Seitz, Angelika, Kölker, Stefan, Harting, Inga
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5402644/
https://ncbi.nlm.nih.gov/pubmed/28438223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0612-6
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