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JAMA 292 (23), 28682873

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Our patient was diagnosed with severe GSSD after neonatal onset, with symptoms including hemolytic anemia, hyperbilirubinemia and severe metabolic acidosis (intractable), urine-organic acid analysis results suggestive of the presence of 5-oxoprolinuria, and imaging results suggestive of central nervous system damage and developmental retardation in the infant at follow-up