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Published in 2018 at "Neuropediatrics"
DOI: 10.1055/s-0038-1673332
Abstract: &NA; Phosphomannomutase deficiency (PMM2‐CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively assesses fluency and…
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Keywords:
pmm2 cdg;
dysarthria;
pata rate;