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Results 1 - 4 of 4 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. 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
  4. 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