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Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS).

FH significantly increases cardiovascular risk from childhood yet remains widely underdiagnosed. This cross-sectional study aimed to evaluate existing pediatric FH diagnostic criteria in real-world cohorts and to develop two novel diagnostic tools: a semi-quantitative scoring system (FH-PeDS) and a machine learning model (ML-FH-PeDS) to enhance early FH detection.

 

Jan Kafol

Beatriz Miranda

Rok Sikonja

Jaka Sikonja

Albert Wiegman

Ana Margarida Medeiros

Ana Catarina Alves

Tomas Freiberger

Barbara Hutten

Matej Mlinarič

Tadej Battelino

Steve Humphries

Mafalda Bourbon

Urh Groselj

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