Article

Genetic background and clinical characteristics of infantile hyperammonaemia

2022-04-08

Abstract excerpt

<h4>Purpose: </h4> This study was conducted to analyse the genetic spectrum and clinical characteristics of infantile hyperammonaemia (HA). <h4>Methods: </h4> Between January 2016 and June 2020, we enrolled patients with definitive genetic diagnosis of infantile HA at the Children’s Hospital of Fudan University. Based on the age of HA onset, patients were grouped into neonatal and post-neonatal subgroups to compar...

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Literature Corpus work: 9301cbc1-271a-52aa-bee0-1ec385ebd49d
DOI: 10.21203/rs.3.rs-1527973/v1

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