A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Sign Up to like & getrecommendations! Published in 2017 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-017-0707-0
Abstract: BackgroundWe aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. We prospectively evaluated PMM2-CDG… read more here.
Keywords: cdg; children phosphomannomutase; syndrome children; cerebellar syndrome ... See more keywords