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84 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. ... 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. ...
  5. 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 ...
  6. ... 102.600...........................................Piebaldism C16.320.565.100.187...........................................Alkaptonuria C16.320.565.100.477...........................................Hyperglycinemia, Nonketotic C16. ...
  7. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/alkaptonuria</url><title >Alkaptonuria</title><other_names ><other_name >AKU</other_name>< ...
  8. ... Albinism, Ocular Albinism, Oculocutaneous Hermanski-Pudlak Syndrome Piebaldism Alkaptonuria Hyperglycinemia, Nonketotic Hyperhomocysteinemia Homocystinuria Hyperlysinemias Maple Syrup Urine ...
  9. ... 12°. London, T. Bosworth, 1854. Toxaemia. See, also, Alkaptonuria; Cystin and cysti- nuria; Hysteria (Causes, etc., of); ...
  10. ... Adie's Syndrome Adolescent Psychiatry Aggression Agonistic Behavior Agrcphia Alkaptonuria Alveolectomv Alveoloplasty Amblyopi a Amelcbiastoma Androsterone Anesthesiology Ankle ...
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