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329 results
  1. Tay-Sachs Disease 
    https://medlineplus.gov/taysachsdisease.html
    Tay-Sachs disease is a rare genetic disorder. It causes too much of a fatty substance to build up ... Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too ...
  2. Tay-Sachs disease 
    https://medlineplus.gov/ency/article/001417.htm
    GM2 gangliosidosis - Tay-Sachs; Lysosomal storage disease - Tay-Sachs disease ... Tay-Sachs disease occurs when the body lacks hexosaminidase A. This is a protein that helps break down a ...
  3. Tay-Sachs disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/tay-sachs-disease
    ... gangliosidosis. Learn more about the gene associated with Tay-Sachs disease HEXA Inheritance This condition is inherited in an ...
  4. HEXA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/hexa
    ... cell membranes. Health Conditions Related to Genetic Changes Tay-Sachs disease More than 210 variants (also known as mutations) that cause Tay-Sachs disease have been identified in the HEXA gene. Tay- ...
  5. Hexosaminidase A Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1218
    ... hexosaminidase A deficiency include the following: Acute infantile (Tay-Sachs disease) with rapid progression and death before age four ... and/or psychosis. Acute infantile hexosaminidase A deficiency (Tay-Sachs disease, TSD). Affected infants generally appear to be completely ...
  6. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 140.163.100.435.825.300.300.500 Tay-Sachs Disease C10.228.140.163.100.435.825.300.300.750 Tay-Sachs Disease, AB Variant C10.228.140.163.100.435. ... 320.565.189.435.825.300.300.500 Tay-Sachs Disease C16.320.565.189.435.825.300.300. ...
  7. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... variant</synonym><synonym >Hexosaminidase activator deficiency</synonym><synonym >Tay-Sachs disease, AB variant</synonym></synonym-list><db-key-list >< ...
  8. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... 750 Disease Tree - heading Gangliosidoses, GM2 Sandhoff Disease Tay-Sachs Disease Tay-Sachs Disease, AB Variant Gangliosidosis, GM1 Gaucher Disease Leukodystrophy, Globoid ...
  9. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... 140.163.100.435.825.300.300.500...........................................Tay-Sachs Disease C10.228.140.163.100.435.825.300.300.750...........................................Tay-Sachs Disease, AB Variant C10.228.140.163.100.435. ...
  10. xmlmplus_topics_2024-04-30.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-04-30.xml
    ... Genética y defectos congénitos</group><language-mapped-topic >Tay-Sachs Disease</language-mapped-topic><primary-institute >Instituto Nacional de ...
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