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Gene dossier Disorders Genes
Urea Cycle Disorders

Sheffield RGC - 2014

Urea Cycle Disorders

Sheffield RGC - 2014

  • Argininemia
    • ARG1 Deficiency
    • Arginase Deficiency
    • Hyperargininemia
  • arginase 1
    • arginase, liver
Urea Cycle Disorders

Sheffield RGC - 2014

  • Argininosuccinic Aciduria
    • Argininosuccinase Deficiency
    • Argininosuccinate Lyase Deficiency
    • Argininosuccinic Acid Lyase Deficiency
    • ASL Deficiency
  • argininosuccinate lyase
    • argininosuccinase
Urea Cycle Disorders

Sheffield RGC - 2014

  • Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
    • Carbamoyl Phosphate Synthetase I Deficiency
    • Cps I Deficiency
  • carbamoyl-phosphate synthase 1
    • carbamoyl phosphate synthetase i deficiency
    • carbamoyl-phosphate synthase 1, mitochondrial
    • carbamoyl-phosphate synthetase 1, mitochondrial
    • cps i deficiency
Urea Cycle Disorders

Sheffield RGC - 2014

  • Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
    • Ornithine Carbamoyltransferase Deficiency
    • Otc Deficiency
    • Valproate Sensitivity, Included
  • ornithine carbamoyltransferase
    • ornithine transcarbamylase
Urea Cycle Disorders

Sheffield RGC - 2014

  • Citrullinemia, Classic
    • Argininosuccinate Synthetase Deficiency
    • ASS Deficiency
    • Citrullinemia, Type I
    • Citrullinuria
  • argininosuccinate synthetase 1
    • argininosuccinate synthetase
Urea Cycle Disorders

Sheffield RGC - 2014

  • N-Acetylglutamate Synthase Deficiency
    • Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
    • N-Acetylglutamate Synthetase Deficiency
    • NAGS Deficiency
  • N-acetylglutamate synthase

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