Associated Papers
99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.
Cen Z et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J et al.
American Journal of Medical Genetics. Part A, 2021
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
Diez-Fernandez C et al.
Human Mutation, 2017
Citrullinaemia type I: a common mutation in the Pacific Island population.
Glamuzina E et al.
Journal of Paediatrics and Child Health, 2011
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K et al.
Human Mutation, 2009
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
Häberle J et al.
Human Genetics, 2002
The 1.6 A crystal structure of E. coli argininosuccinate synthetase suggests a conformational change during catalysis.
Lemke CT et al.
Structure (london, England : 1993), 2001
Mutations and DNA diagnoses of classical citrullinemia.
Kakinoki H et al.
Human Mutation, 1997
Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.
Kobayashi K et al.
Human Genetics, 1995
Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia.
Kobayashi K et al.
American Journal of Human Genetics, 1995
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
Kobayashi K et al.
American Journal of Human Genetics, 1994
Hyperammonemia in urea cycle disorders: A toxic metabolite for the brain.
Kido J et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.
Shaheen N et al.
Enzyme & Protein, 0
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