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Results 1 - 6 of 6 for Sialuria
  1. Sialuria 
    Sialuria is a rare disorder that affects development. Infants with sialuria are often born with a yellow ...
    https://medlineplus.gov/genetics/condition/sialuria - Genetics
  2. Free sialic acid storage disorder 
    ... severe form of FSASD is called infantile free sialic acid storage disease or ISSD. The signs and symptoms of this ... show signs and symptoms of the condition. FSASD Sialic acid storage disease Genetic Testing Registry: Salla disease Genetic Testing Registry: ...
    https://medlineplus.gov/.../free-sialic-acid-storage-disorder - Genetics
  3. GNE gene 
    ... the GNE gene have been found to cause sialuria. Each of these variants changes a single amino ... body interferes with normal development in people with sialuria. More About This Health Condition Some people with ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  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. 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
  6. 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