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42 results
  1. Lesch-Nyhan syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome
    ... gov Catalog of Genes and Diseases from OMIM LESCH-NYHAN SYNDROME; LNS HYPERURICEMIA, HPRT-RELATED; HRH Scientific Articles on PubMed PubMed References Ceballos-Picot I, Mockel L, Potier MC, Dauphinot ...
  2. HPRT1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/hprt1
    ... 4 HPRT HPRT_HUMAN HPRTase hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan ... References Duan J, Nilsson L, Lambert B. Structural and ...
  3. 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 ...
  4. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Merzbacher Disease Homocystinuria Hyperglycinemia, Nonketotic Hyperlysinemias Leigh Disease Lesch-Nyhan Syndrome Lysosomal Storage Diseases, Nervous System Fucosidosis Glycogen Storage ...
  5. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... Leigh Disease C10.228.140.163.100.425 Lesch-Nyhan Syndrome C10.228.140.163.100.435 Lysosomal Storage ... Type IIb C10.597.606.360.455.625 Lesch-Nyhan Syndrome C10.597.606.360.455.687 Menkes Kinky ...
  6. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... Leigh Disease C10.228.140.163.100.425...........................................Lesch-Nyhan Syndrome Page 290 2016 MeSH Tree Hierarchy Tree location ... Type IIb C10.597.606.643.455.625...........................................Lesch-Nyhan ... Kinky ...
  7. Genetic Brain Disorders | MedlinePlus 
    https://medlineplus.gov/geneticbraindisorders.html
    ... Syndrome (National Institute of Neurological Disorders and Stroke) Lesch-Nyhan Syndrome (National Institute of Neurological Disorders and Stroke) Lipid ...
  8. 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 ...
  9. 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 ...
  10. Metabolic Disorders 
    https://medlineplus.gov/metabolicdisorders.html
    ... Learning about Trimethylaminuria (National Human Genome Research Institute) Lesch-Nyhan Syndrome (National Institute of Neurological Disorders and Stroke) What ...
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