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Navigating adulthood with PKU: metabolic outcomes, quality of life, and mental health 4.5 years post-transition.
Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS).
Clinical burden of propionic acidemia in the United States: a claims-based study by age stratum.
Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.
Estimating mortality in rare diseases using a population-based registry, 2002 through 2019.