Neurocognitive Phenotype of Isolated Methylmalonic Acidemia

OBJECTIVE: Methylmalonic acidemia (MMA) is a metabolic disorder with a poorly defined long-term neurocognitive phenotype. We studied the neuropsychological outcomes of patients and examined clinical covariates that influenced cognition. METHODS: A diverse cohort with mut, cblA, or cblB subtypes of i...

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Autori principali: O’Shea, Colin J., Sloan, Jennifer L., Wiggs, Edythe A., Pao, Maryland, Gropman, Andrea, Baker, Eva H., Manoli, Irini, Venditti, Charles P., Snow, Joseph
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Academy of Pediatrics 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3362903/
https://ncbi.nlm.nih.gov/pubmed/22614770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1542/peds.2011-1715
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