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Exit interviews with caregivers of pediatric patients with classic galactosemia to explore meaningfulness of changes in the ACTION-galactosemia kids trial.
Specific plasma metabolite profile in intestinal Behçet's syndrome.
Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis.
Physicians' use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study.
Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves' disease.