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11 results
  1. Alkaptonuria 
    https://medlineplus.gov/ency/article/001200.htm
    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. Alkaptonuria - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1454
    ... 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. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Alkaptonuria</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. Amino Acid Metabolism Disorders 
    https://medlineplus.gov/aminoacidmetabolismdisorders.html
    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. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/alkaptonuria</url><title >Alkaptonuria</title><other_names ><other_name >AKU</other_name>< ...
  6. Aminoaciduria 
    https://medlineplus.gov/ency/article/003366.htm
    ... total urine amino acids may be due to: Alkaptonuria Canavan disease Cystinosis Cystathioninuria Fructose intolerance Galactosemia Hartnup ...
  7. List of Excluded Studies - Systematic Review of Cardiovascular Disease Risk Assessment Tools - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK56162
    ... WJ, Perry MB, et al. Natural history of alkaptonuria. N Engl J Med. 2002 Dec 26; 347 ( ...
  8. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... November 15, 2002; Last Update: November 12, 2020. Alkaptonuria Wendy J Introne, Monique Perry, and Marcus Chen. ...
  9. Alkaptonuria 
    https://medlineplus.gov/genetics/condition/alkaptonuria
    Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage ...
  10. HGD gene 
    https://medlineplus.gov/genetics/gene/hgd
    ... HGD gene have been identified in people with alkaptonuria. Most of these mutations change single amino acids ... Ferran C, Mendoza H, Rodriguez De Cordoba S. Alkaptonuria in the Dominican Republic: identification of the founder ...