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Research in the Valente Lab is supported by the Italian Ministry of Health (Ricerca Corrente 2023-2024).
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S.R.: drafting of the commentary; analysis and interpretation of literature data, with focus on clinical classification and scores; S.G., E.M.V.: revising the commentary critically, focusing on interpretation of genetic data, and genotype–phenotype correlations; E.M.V.: final approval of the version to be published.
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Ravaglia, S., Gana, S. & Valente, E.M. Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates. Pediatr Res (2024). https://doi.org/10.1038/s41390-024-03149-9
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DOI: https://doi.org/10.1038/s41390-024-03149-9