Article

Novel sequence of PHKG2 mutation associated with first case of glycogen storage disease type IXc in Syria: a case report

2024-06-04

Abstract excerpt

<title>Abstract</title><p><bold>Background</bold>Glycogen storage diseases (GSDs) are group of inherited metabolic disorders that affect the body's ability to break down and/or store glycogen. Type IX GSD is caused by the deficiency of hepatic phosphorylase, which lead to various symptoms .<bold>Case Presentation</bold>We report a case of 6_month_old Syrian male presented by development delay, enlarged abdomen and...

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Literature Corpus work: 2347fe5b-03cb-5d16-a821-179a59d7bef9
DOI: 10.21203/rs.3.rs-4486167/v1

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