Article

Clinical outcome and genotype analysis of 4 Chinese children with pyruvate kinase deficiency

2022-06-09

Abstract excerpt

<h4>Objective: </h4> To summarize the clinical features and laboratory examinations of 4 Chinese children with pyruvate kinase deficiency (PKD)，and analyze genomic mutations. <h4>Method: </h4> Collected and analyzed the clinical data of all children and their parents, and completed the relevant laboratory examinations of all children. Analyzed the sequences of related genes in children by second-generation sequenc...

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Literature Corpus work: 4cb60880-aac3-5a48-b427-cafd35c8c849
DOI: 10.21203/rs.3.rs-1716141/v1

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