Associated Papers
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
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Human Mutation, 2020
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Silvera-Ruiz SM et al.
Orphanet Journal of Rare Diseases, 2019
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
Hu L et al.
Journal of Inherited Metabolic Disease, 2015
25778938 (PubMed )
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