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doi: 10.1530/ror.0.0040031
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Late-onset forms are less frequent, and they are characterised by recurrent life-threatening episodes of metabolic crises characterised for encephalopathy, lethargy, seizures, vomiting, deshidratation, metabolic acidosis, hypoglycaemia and hyperammonemia, in the context of catabolic situations, usually concurrent infections or dietetic transgressions
Zhuang R, Ge X, Han L, et al
