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Case report Open access Oct 2026

Case Report: When cardiomyopathy is the clue: late-presenting propionic acidemia manifesting as acute heart failure

Background Propionic acidemia (PA) is a rare inborn error of metabolism that typically presents in infancy; however, late-onset variants may manifest with atypical features, including cardiac involvement. Dilated cardiomyopathy (DCM) is an uncommon but serious complication. Case summary A 15-year-old with no prior medi...

Belinda Kwartemaa Nti, Noah Trapp, Asma Ali et al. · 0 citations
Open access Oct 2026

Rapid Whole-Genome Sequencing in Pediatric Neurology Inpatients.

Importance Rapid whole-genome sequencing (WGS) has advanced inpatient genetic diagnosis, although most evidence comes from neonatal and pediatric intensive care unit (ICU) populations. Its utility for pediatric neurology inpatients across broader acute settings remains insufficiently established. Objective To assess...

Man Amanat, Asma Ali, Q. Tan et al. · 1 citation

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