Neonatal Presentations of Metabolic Disorders

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ARTICLE ABSTRACT: Abbreviations: FAOD: fatty acid oxidation defect FTT: failure to thrive HFI: hereditary fructose intolerance HIE: hypoxic-ischemic encephalopathy IUGR: intrauterine growth restriction LPI: lysinuric protein intolerance MMA: methylmalonic acidemia MRI: magnetic resonance imaging NBS: newborn screening PA: propionic acidemia RUSP: Recommended Uniform Screening Panel WES: whole exome sequencing WGS: whole […]