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Diagnóstico tardío de glucogenosis tipo IXc en un niño procedente de población vulnerable rural. Reporte de caso
Introduction: Glycogen storage disease type IXc is an autosomal recessive metabolic disorder caused by a variant in the PHKG2 gene. It presents during childhood with hepatomegaly, fasting hypoglycemia, and growth retardation. Early diagnosis is essential to avoid complications and unnecessary i
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