Article

Pregnancy-related Type Citrullinemia Type 1: an Analysis of 14 Cases and Review of the Literature

2021-12-22

Abstract excerpt

Citrullinemia type 1 (CTLN1) is a rare autosomal recessive urea cycle disorder, without functional argininosuccinate synthase (ASS) enzyme, mostly occurring in newborns and infants, but it has been reported having an adult-onset in carriers of the pathogenic gene, and even more rarely, the onset of the disease is pregnancy related. The diagnosis and management process of pregnancy-related type citrullinemia 1 was...

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Literature Corpus work: 2a36d733-74c0-5c84-a4f7-e1cae5ad0639
DOI: 10.21203/rs.3.rs-1162222/v1

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