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Results 1 - 6 of 6 for Sialic acid storage "disease," severe infantile type
Did you mean silicon acid storage "disease," severe infantile type?
  1. Sialic acid storage disease 
    ... Testing Registry: Salla disease Genetic Testing Registry: Sialic acid storage disease, severe infantile type Free sialic acid storage disease National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/sialic-acid-storage-disease - Genetics
  2. SLC17A5 gene 
    ... not well understood. Approximately 20 mutations that cause sialic acid storage disease have been identified in the SLC17A5 gene. Some ... the lysosomal membrane.There are three forms of sialic acid storage disease. A particular SLC17A5 mutation, found primarily in people ...
    https://medlineplus.gov/genetics/gene/slc17a5 - Genetics
  3. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  4. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/metabolicdisorders.html - Health Topics
  5. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... Primary hyperoxaluria Pyruvate kinase deficiency Rhizomelic chondrodysplasia punctata Sialic acid storage disease , including Salla disease Sickle cell disease , also called ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  6. Sialuria 
    ... or Free article on PubMed Central Strehle EM. Sialic acid storage disease and related disorders. Genet Test. 2003 Summer;7( ...
    https://medlineplus.gov/genetics/condition/sialuria - Genetics