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82 results
  1. AKU; Alkaptonuria; Homogentisic acid oxidase deficiency; Alkaptonuric ochronosis ... A defect in the HGD gene causes alkaptonuria. The gene defect makes the body unable to properly break down the amino acids tyrosine and phenylalanine. As a result, a substance called ...
  2. ... Search term GeneReviews Advanced Search Help < Prev Next > Alkaptonuria Synonym: Alcaptonuria Wendy J Introne , MD, Monique Perry , ... the US and Europe. Nitisinone therapeutic trials in alkaptonuria. In a three-year therapeutic trial, 2 mg ...
  3. ... published></health-condition-summary><health-condition-summary ><name >Alkaptonuria</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. Disorders like phenylketonuria (PKU) and maple syrup urine disease cause problems with how your body uses proteins. Learn more about them. ... Metabolism is the process ...
  5. ... 102.600 Piebaldism C16.320.565.100.187 Alkaptonuria C16.320.565.100.477 Hyperglycinemia, Nonketotic C16. ... 102.600 Piebaldism C18.452.648.100.187 Alkaptonuria C18.452.648.100.477 Hyperglycinemia, Nonketotic C18. ...
  6. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/alkaptonuria</url><title >Alkaptonuria</title><other_names ><other_name >AKU</other_name>< ...
  7. ... 12°. London, T. Bosworth, 1854. Toxaemia. See, also, Alkaptonuria; Cystin and cysti- nuria; Hysteria (Causes, etc., of); ...
  8. ... Adie's Syndrome Adolescent Psychiatry Aggression Agonistic Behavior Agrcphia Alkaptonuria Alveolectomv Alveoloplasty Amblyopi a Amelcbiastoma Androsterone Anesthesiology Ankle ...
  9. ... total urine amino acids may be due to: Alkaptonuria Canavan disease Cystinosis Cystathioninuria Fructose intolerance Galactosemia Hartnup ...
  10. ... WJ, Perry MB, et al. Natural history of alkaptonuria. N Engl J Med. 2002 Dec 26; 347 ( ...
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