Susana María Pujol Serra
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View article: Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study Open
Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profil…