title: Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
authors.affiliation: Universität Kinderklinik Muenster, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Linnebank
authors.forename: A
authors.initials: A
authors.lastname: Homberger
authors.forename: B
authors.initials: B
authors.lastname: Rapp
authors.forename: C
authors.initials: C
authors.lastname: Winter
authors.forename: T
authors.initials: T
authors.lastname: Marquardt
authors.forename: E
authors.initials: E
authors.lastname: Harms
authors.forename: H G
authors.initials: HG
authors.lastname: Koch
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics; D001120:Arginine / Q000008:administration & dosage / Q000627:therapeutic use; D001123:Argininosuccinate Lyase / Q000235:genetics*; D001125:Argininosuccinic Acid / Q000097:blood; D056807:Argininosuccinic Aciduria; D002675:Child, Preschool; D006529:Hepatomegaly / Q000150:complications; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000150:complications / Q000188:drug therapy / Q000201:enzymology; D017354:Point Mutation; D011596:Psychomotor Disorders / Q000150:complications; D012326:RNA Splicing; D020160:Sodium Benzoate / Q000008:administration & dosage / Q000627:therapeutic use
chemical_list: D001125:Argininosuccinic Acid; D001120:Arginine; D001123:Argininosuccinate Lyase; D020160:Sodium Benzoate