Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference36 articles.
1. Argininosuccinase from bovine brain: Isolation and comparison of catalytic, physical, and chemical properties with the enzymes from liver and kidney
2. Argininosuccinase from bovine kidney: Comparison of catalytic, physical, and chemical properties with the enzyme from bovine liver
3. Tubular organization of crystalline argininosuccinase
4. Biosynthesis of Urea
5. Argininosuccinate lyase: purification and characterization from human liver
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1. Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia;JIMD Reports;2021-09-26
2. Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency;Molecular Genetics and Metabolism Reports;2019-12
3. Understanding the Role of Argininosuccinate Lyase Transcript Variants in the Clinical and Biochemical Variability of the Urea Cycle Disorder Argininosuccinic Aciduria;Journal of Biological Chemistry;2013-11
4. Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria;The American Journal of Human Genetics;2012-05
5. Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria;Journal of Inherited Metabolic Disease;2011-06-11
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