Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
Linnebank
M
M
Universität Kinderklinik Muenster, Germany.
Homberger
A
A
Rapp
B
B
Winter
C
C
Marquardt
T
T
Harms
E
E
Koch
H G
HG
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
D001125:Argininosuccinic Acid; D001120:Arginine; D001123:Argininosuccinate Lyase; D020160:Sodium Benzoate