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Elena Martín-Hernández

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Open access Oct 2026

Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single‐Center Cohort

ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized. We conducted an observational, retrospective, s...

Elena Martín-Hernández, D. Barrio-Carreras, María Martín-Cazaña et al. · 0 citations

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