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

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

Abstract 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 spectr...

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Main Authors: Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
glycogen storage disease
hepatic GSD
molecular diagnosis
next‐generation sequencing
Online Access:https://doi.org/10.1002/mgg3.877

Internet

https://doi.org/10.1002/mgg3.877

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