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87 results

  1. Argininosuccinic aciduria 
    https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria
    ... belongs to a class of genetic diseases called urea cycle disorders because they are caused by problems with a ... Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. ...
  2. Ornithine translocase deficiency 
    https://medlineplus.gov/.../ornithine-translocase-deficiency
    ... belongs to a class of genetic diseases called urea cycle disorders. SLC25A15 This condition is inherited in an autosomal ... patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. Mol Genet Metab. 2003 Aug;79(4):257- ...
  3. SLC25A15 gene 
    https://medlineplus.gov/genetics/gene/slc25a15
    ... patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. Mol Genet Metab. 2003 Aug;79(4):257- ... PubMed Waisbren SE, Gropman AL; Members of the Urea Cycle Disorders Consortium (UCDC); Batshaw ML. Improving long term outcomes ...
  4. Carnitine-Acylcarnitine Translocase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK582032
    ... to ↓ acetyl-CoA & therefore NAG (essential in the urea cycle). 11 High dietary carbohydrate intake appears necessary to ... Helm JR, eds. Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University ... Chim Acta. 2000; 298 :55–68. [ PubMed : ...
  5. Creatine Deficiency Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3794
    ... Rizzo C, Dionisi-Vici C. Creatine metabolism in urea cycle defects. J Inherit Metab Dis. 2012;35:647- ...
  6. Ornithine transcarbamylase deficiency 
    https://medlineplus.gov/.../ornithine-transcarbamylase-deficiency
    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. ...
  7. Arginase deficiency 
    https://medlineplus.gov/genetics/condition/arginase-deficiency
    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. ...
  8. Carbamoyl phosphate synthetase I deficiency 
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency
    ... belongs to a class of genetic diseases called urea cycle disorders. In this condition, the carbamoyl phosphate synthetase I ... Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. ...
  9. OTC gene 
    https://medlineplus.gov/genetics/gene/otc
    ... Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. ... Helman G, Pacheco-Colon I, Gropman AL. The urea cycle disorders. Semin Neurol. 2014 Jul;34(3):341-9. ...
  10. Citrullinemia 
    https://medlineplus.gov/genetics/condition/citrullinemia
    ... belongs to a class of genetic diseases called urea cycle disorders. ASS1 SLC25A13 Both types of citrullinemia are inherited ...
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