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Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma

A 4‐year‐old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity. She had generalized dyskinesia predominantly bulbar and limbs. Motor and s...

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Detalles Bibliográficos
Autores principales: Foran, Jason, Moore, Michael, Crushell, Ellen, Knerr, Ina, McSweeney, Niamh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932869/
https://www.ncbi.nlm.nih.gov/pubmed/33728242
http://dx.doi.org/10.1002/jmd2.12187