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Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents.
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
📖 RevisãoPulmonary haemodynamic response to exercise in highlanders versus lowlanders.
Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study.
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
🥈 Observacional