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Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark. However, other acute neurological phenomena such as stroke-like episodes (SLE), epilepsy, migraine, and cerebrovascul...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542667/ https://www.ncbi.nlm.nih.gov/pubmed/34708008 http://dx.doi.org/10.3389/fped.2021.717864 |