Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China

Abstract excerpt

<title>Abstract</title><p><bold>Background</bold>This study aimed to investigate the clinical and molecular genetic characteristics of ten children with ornithine carbamoyltransferase deficiency (OTCD) in southeastern China, as well as the correlation between the genotype and phenotype of OTCD.<bold>Methods</bold>The clinical manifestations, laboratory testing, and genetic test findings of ten children with OTCD a...

Topics

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• Child, Preschool
• China
• Genetic Testing
• Infant
• Mutation
• Ornithine Carbamoyltransferase
• Ornithine Carbamoyltransferase Deficiency Disease
• Phenotype

Identifiers and source

Literature Corpus work

bb12e7f3-f4de-51de-b668-f74199746a21

DOI

10.21203/rs.3.rs-3557771/v1