Article

Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy

2024-08-10

Abstract excerpt

<title>Abstract</title> <p><bold>[Background]</bold> <italic>GNE</italic> encodes a rate-limiting enzyme that regulates the biosynthesis of a sialic acid precursor. As sialic acids are critical for the platelet membrane and muscle fibers, <italic>GNE</italic> variants cause <italic>GNE</italic>-related thrombocytopenia and <italic>GNE</italic>-related myopathy. Here, we report a neonate with thrombocytopenia that...

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Literature Corpus work: 07322c51-0c53-516c-a8b8-17ba89afdcef
DOI: 10.21203/rs.3.rs-4708622/v1

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