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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Xehetasun bibliografikoak
Egile Nagusiak: Hu, Liyan, Pandey, Amit V., Eggimann, Sandra, Rüfenacht, Véronique, Möslinger, Dorothea, Nuoffer, Jean-Marc, Häberle, Johannes
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Biochemistry and Molecular Biology 2013
Gaiak:
Molecular Bases of Disease
Sarrera elektronikoa: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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