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

BACKGROUND: Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well‐recognized diseases that can occur without the full spectrum, and...

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Detalles Bibliográficos
Autores principales:	Sperb-Ludwig, Fernanda, Pinheiro, Franciele Cabral, Bettio Soares, Malu, Nalin, Tatiele, Ribeiro, Erlane Marques, Steiner, Carlos Eduardo, Ribeiro Valadares, Eugênia, Porta, Gilda, Fishinger Moura de Souza, Carolina, Schwartz, Ida Vanessa Doederlein
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825860/ https://www.ncbi.nlm.nih.gov/pubmed/31508908 http://dx.doi.org/10.1002/mgg3.877

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