Published article

Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients

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Short abstract

The study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. Thirty new mutations predicted as pathogenic were found in the 65 variants identified. It was determined the clinical utility of the Next‐Generation Sequencing (NGS) for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.