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  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. Alkaptonuria: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/alkaptonuria
    ... air. Learn more about the gene associated with Alkaptonuria HGD Inheritance This condition is inherited in an ... Information & Resources Genetic Testing Information Genetic Testing Registry: Alkaptonuria Genetic and Rare Diseases Information Center Alkaptonuria Patient ...
  4. HGD gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/hgd
    ... the body. Health Conditions Related to Genetic Changes Alkaptonuria More than 65 mutations in the HGD gene have been identified in people with alkaptonuria. Most of these mutations change single amino acids ...
  5. 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/ ...
  6. Genetic Conditions 
    https://medlineplus.gov/genetics/condition
    ... syndrome AIS, see Adolescent idiopathic scoliosis AKU, see Alkaptonuria Al-Aqeel Sewairi syndrome, see Multicentric osteolysis, nodulosis, ... Sternberg syndrome, see McCune-Albright syndrome Alcaptonuria, see Alkaptonuria Alcohol addiction, see Alcohol use disorder Alcohol dependence, ...
  7. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 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. ...
  8. 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 ...
  9. Genetic Conditions: H 
    https://medlineplus.gov/genetics/condition-h
    ... see Homocystinuria Homocystinuria Homogentisic acid oxidase deficiency, see Alkaptonuria Homogentisic acidura, see Alkaptonuria Homozygous PAI-1 deficiency, ...
  10. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Albinism, Ocular Albinism, Oculocutaneous Hermanski-Pudlak Syndrome Piebaldism Alkaptonuria Hyperglycinemia, Nonketotic Hyperhomocysteinemia Homocystinuria Hyperlysinemias Maple Syrup Urine ...
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