Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients – A nationwide study of health insurance claims data

Molecular Genetics and Metabolism(2023)

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摘要
•Large study on clinical impact of PKU in adulthood with French SNDS database.•Comorbidity burden was higher with PKU compared to matched non-PKU controls.•Rate of age-related comorbidities as well as depression and obesity was increased.•Increased burden was still present but less distinct in early-diagnosed patients.•Few adult patients received PKU-specific treatment, even for early-diagnosed PKU.
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关键词
Phenylketonuria (PKU),Adult patients,Comorbidities,Sapropterin,SNDS health insurance data,France
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