Understanding the Role of Argininosuccinate Lyase Transcript Variants in the Clinical and Biochemical Variability of the Urea Cycle Disorder Argininosuccinic Aciduria

Argininosuccinic aciduria (ASA) is an autosomal recessive urea cycle disorder caused by deficiency of argininosuccinate lyase (ASL) with a wide clinical spectrum from asymptomatic to severe hyperammonemic neonatal onset life-threatening courses. We investigated the role of ASL transcript variants in...

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Autors principals: Hu, Liyan, Pandey, Amit V., Eggimann, Sandra, Rüfenacht, Véronique, Möslinger, Dorothea, Nuoffer, Jean-Marc, Häberle, Johannes
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2013
Matèries:
Molecular Bases of Disease
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3843073/
https://ncbi.nlm.nih.gov/pubmed/24136197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M113.503128
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