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83 results
  1. Ornithine transcarbamylase deficiency 
    https://medlineplus.gov/.../ornithine-transcarbamylase-deficiency
    ... Helman G, Pacheco-Colon I, Gropman AL. The urea cycle disorders. Semin Neurol. 2014 Jul;34(3):341-9. doi: 10.1055/s-0034-1386771. Epub 2014 Sep 5. Citation on PubMed
  2. Carbamoyl phosphate synthetase I deficiency 
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency
    ... I. Clinical manifestations of inborn errors of the urea cycle and related ... diagnosis of carbamoyl phosphate synthetase I deficiency by identification ...
  3. Argininosuccinic aciduria 
    https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria
    ... variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis. 2002 Sep;25(5):399-410. doi: 10.1023/a:1020108002877. Citation on PubMed Lee B, Goss J. Long-term correction of urea cycle disorders. J Pediatr. 2001 Jan;138(1 Suppl):S62- ...
  4. xmlmplus_topics_2025-04-18.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-04-18.xml
    ... site ><information-category >Specifics</information-category><organization >National Urea Cycle Disorders Foundation</organization></site><site ><information-category >Genetics</information- ...
  5. Glutaric Acidemia Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546575
    ... C. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab ... A. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit ...
  6. Citrullinemia 
    https://medlineplus.gov/genetics/condition/citrullinemia
    ... belongs to a class of genetic diseases called urea cycle disorders. ... Genetic Testing Registry: ...
  7. OTC gene 
    https://medlineplus.gov/genetics/gene/otc
    ... ammonia causes neurological problems and other signs and symptoms of ornithine transcarbamylase deficiency. More About This Health Condition ... Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. ...
  8. ASS1 gene 
    https://medlineplus.gov/genetics/gene/ass1
    ... feeding, vomiting, seizures, and the other signs and symptoms of type I citrullinemia. More About This Health Condition ... Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. ...
  9. Arginase deficiency 
    https://medlineplus.gov/genetics/condition/arginase-deficiency
    ... but they typically do not show signs and symptoms of the condition. ARG1 deficiency Arginase deficiency ... Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun ...
  10. 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 ...
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