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Article

Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.

Pediatric research - 1 Jul 2024

Da Silva Jorge Diogo, Pereira Ângela, Soares Ana Rita, Guimas Arlindo, Rocha Sara, Cardoso Márcio, Garrido Cristina, Soares Célia Azevedo, Nunes Isabel Serra, Fortuna Ana Maria, Quelhas Dulce, Figueiroa Sónia, Ribeiro Rosa, Santos Manuela, Martins Esmeralda, Tkachenko Nataliya

Abstract excerpt

BACKGROUND: Glycogen storage disease type V (GSDV) is an autosomal recessive metabolic condition caused by pathogenic PYGM variants. This is an underdiagnosed condition as it presents with exercise intolerance in children. We reviewed the GSDV cases of a tertiary hospital center to assess diagnostic timing/accuracy, as well as potential clinical/analytical predictors of such factors. METHODS: We retrospectively...

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Identifiers

PMID: 38052860
DOI: 10.1038/s41390-023-02943-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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