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JIMD Reports|October 15, 2026
Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single-Center CohortElena Martín-Hernández, Delia Barrio-Carreras, María Martín-Cazaña, et al.
JIMD Reports|September 8, 2026
Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic OvershadowingKarla Cifuentes-Uribe, Sandrine Girard, Roseline Froissart, et al.
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