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Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria

Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism which has been proposed being a benign condition. However, older patients may present with neurological manifestations such as seizures, memory problems, psychiatric problems and/ or cognitive decline. In fibroblas...

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Detalles Bibliográficos
Autor principal: Tucci, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977288/
https://www.ncbi.nlm.nih.gov/pubmed/31969167
http://dx.doi.org/10.1186/s13023-020-1299-7