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23 results
  1. HPRT1 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1149
    ... HPRT1 Data are compiled from the following standard references: gene from HGNC ; ... LNS 300323 HYPERURICEMIA, HPRT-RELATED; HRH 308000 HYPOXANTHINE ...
  2. Genetic Brain Disorders | MedlinePlus 
    https://medlineplus.gov/geneticbraindisorders.html
    ... Syndrome (National Institute of Neurological Disorders and Stroke) Lesch-Nyhan Syndrome (Genetic and Rare Diseases Information Center) Lipid Storage ... Parents) (Nemours Foundation) Also in Spanish Patient Handouts Lesch-Nyhan syndrome (Medical Encyclopedia) Also in Spanish Maple syrup urine ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome</url><title >Lesch-Nyhan syndrome</title><other_names ><other_name >Choreoathetosis self-mutilation ...
  4. Clinical evidence – search strategies - Challenging Behaviour and Learning Disabilities - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK355386
    ... or de lange syndrome/ or down syndrome/ or lesch-nyhan syndrome/ or fragile x syndrome/ or mucopolysaccharidoses/ or exp ... down syndrome] this term only #26. mesh descriptor: [lesch-nyhan syndrome] this term only #27. mesh descriptor: [fragile x ...
  5. Metabolic Disorders 
    https://medlineplus.gov/metabolicdisorders.html
    ... Learning about Trimethylaminuria (National Human Genome Research Institute) Lesch-Nyhan Syndrome (Genetic and Rare Diseases Information Center) What Is ...
  6. Huntington Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1305
    ... associated neurodegeneration (previously known as Hallervorden-Spatz syndrome), Lesch-Nyhan syndrome , Wilson disease , progressive myoclonic epilepsy [ Gambardella et al ...
  7. Uric Acid Test: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/uric-acid-test
    ... body Obesity An inherited genetic condition , such as Lesch-Nyhan syndrome , that makes it hard for your body to ...
  8. Amino Acid Metabolism Disorders 
    https://medlineplus.gov/aminoacidmetabolismdisorders.html
    ... Isovaleric acidemia: MedlinePlus Genetics (National Library of Medicine) Lesch-Nyhan syndrome: MedlinePlus Genetics (National Library of Medicine) Maple syrup ...
  9. Hereditary Dystonia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1155
    ... PLP1 Hypomyelination on MRI Disorders of purine metabolism Lesch-Nyhan syndrome XL HPRT1 Self-mutilation; ↑ uric acid in plasma & ...
  10. Pantothenate Kinase-Associated Neurodegeneration - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1490
    ... such as DYT1 Juvenile Huntington disease Chorea-acanthocytosis Lesch-Nyhan syndrome Wilson disease Recessive hereditary spastic paraplegia Tourette disorder [ ...
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