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Patient experience in retinitis pigmentosa and Choroideremia- a concept elicitation study in 17 patients based on qualitative interviews.
Clinical burden of propionic acidemia in the United States: a claims-based study by age stratum.
Economic burden of propionic acidemia in the United States: a claims-based study.
Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine.
Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders.