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The prevalence and long-term response to calcium channel blockers in patients with pulmonary arterial hypertension and positive vasoreactivity test - results of multicenter national registry (BNP-PL).
The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.
A cost-utility analysis of newborn screening for spinal muscular atrophy in Canada.
Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension.
💬 OpiniãoSystematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes.