Article
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Molecular genetics & genomic medicine - 1 Nov 2019
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
Abstract excerpt
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 with overlapping in symptoms. METHODS: We analyzed a cohort of 125 patients with suspected hepatic GSD through a...
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