article_metadata: Mei Zhao Lingling Hou Huajing Teng Jinchen Li Jiesi Wang Kunlin Zhang Lin Yang
article_metadata: 10.1155/2019/3530198
article_metadata: Biomed Res Int
article_metadata: 2019 Apr 30;2019:3530198.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/31183366/
article_metadata: Argininosuccinate Lyase / genetics Argininosuccinate Lyase / metabolism Argininosuccinic Aciduria / enzymology Argininosuccinic Aciduria / genetics Exome Sequencing Heterozygote Mutation, Missense
article_metadata: Argininosuccinate Lyase / genetics Argininosuccinate Lyase / metabolism Argininosuccinic Aciduria / enzymology Argininosuccinic Aciduria / genetics Exome Sequencing Heterozygote Mutation, Missense Case Reports Amino Acid Substitution Citrulline / blood Citrulline / genetics HEK293 Cells Humans Infant Male Citrulline Argininosuccinate Lyase
article_metadata: PMC6515145
article_metadata: 31183366
article_metadata: Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
article_metadata: 2019