Article

A Case of PMM2-CDG Caused by an A108V Mutation Associated With a Heterozygous 70 Kilobases Deletion

2022-02-01

Abstract excerpt

<title>Abstract</title> <p>Background: Congenital Disorders of Glycosylation (CDG) are a large group of inherited inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized is also the most common, PMM2-CDG, with an autosomal recessive transmission. The <italic>PMM2</italic> gene is encoding a phosphomannomutase. Case report: We report the case of a French chi...

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Literature Corpus work: ce89b167-232f-55b0-a2af-440893edc737
DOI: 10.21203/rs.3.rs-1231444/v1

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