Article

Argininosuccinate Lyase (ASL) Deficiency; Outcome of Patients with an Early Presentation at Johns Hopkins Aramco Healthcare (JHAH)

2023-08-29

Abstract excerpt

Argininosuccinic aciduria (ASA) is an autosomal recessive inborn error of the urea disorder (UCD) cycle caused by mutation in the gene encoding argininosuccinate lyase (ASL). Here, we describe long-term complications and outcome of twelve Saudi Arab patients originated from four unrelated families diagnosed with ASA from January 1st 1983 to December 31st 2022 within Johns Hopkins Aramco Healthcare (JHAH). The age...

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Literature Corpus work: ce97fd8d-6ce1-5878-afe4-96c9989455f9
DOI: 10.21203/rs.3.rs-3279667/v1

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