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Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol.
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.
Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay.
Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.
📖 RevisãoFrom motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.