Results 1 - 7 of 7 for Salla disease
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  1. ... three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease.Infantile free sialic acid storage disease (ISSD) is ...
  2. ... least severe form of this disorder known as Salla disease. This mutation replaces the protein building block (amino ... acid storage disease. Individuals diagnosed with intermediate severe Salla disease have one copy of the SLC17A5 gene with ...
  3. ... Rhizomelic chondrodysplasia punctata Sialic acid storage disease , including Salla disease Sickle cell disease , also called sickle cell anemia ...
  4. Types of Leukodystrophies (United Leukodystrophy Foundation)  
    Leukodystrophies/Specifics ... Leukodystrophies ... United Leukodystrophy Foundation ... We are working with our Medical and Scientific Advisory Board, Board of Directors, ...
  5. 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. ...
  6. 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 ...
  7. ... or Free article on PubMed Central Strehle EM. Sialic acid storage disease and related disorders. Genet Test. 2003 Summer;7( ...