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10 results
  1. Alkaptonuria - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1454
    ... preclude the diagnosis. Establishing the Diagnosis The biochemical diagnosis of alkaptonuria is established in a proband with suggestive clinical ... detected on a random urine sample.) The molecular diagnosis of alkaptonuria is established in a proband with suggestive findings ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... in certain tissues, is a characteristic feature of alkaptonuria. The first symptom of alkaptonuria is often urine that turns black or very ...
  3. Alkaptonuria 
    https://medlineplus.gov/ency/article/001200.htm
    Management of alkaptonuria has traditionally been focused on controlling symptoms. Eating a low protein diet may be helpful, but many people find this restriction difficult. Medicines, such as ...
  4. Alkaptonuria 
    https://medlineplus.gov/genetics/condition/alkaptonuria
    ... but they typically do not show signs and symptoms of the condition. AKU Alcaptonuria Homogentisic acid oxidase deficiency Homogentisic acidura Genetic Testing Registry: Alkaptonuria Alkaptonuria National Organization for Rare Disorders (NORD) ClinicalTrials. ...
  5. Amino Acid Metabolism Disorders 
    https://medlineplus.gov/aminoacidmetabolismdisorders.html
    ... hydratase deficiency: MedlinePlus Genetics (National Library of Medicine) Alkaptonuria: MedlinePlus Genetics (National Library of Medicine) Aminoacylase 1 ...
  6. 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>< ...
  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 ( ... Ryan CJ, DeVon HA, Horne R, et al. Symptom clusters in acute myocardial infarction: a secondary data ...
  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. 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 ... In: McPherson RA, Pincus MR, eds. Henry's Clinical Diagnosis and Management by Laboratory Methods . 24th ed. Elsevier; ...