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Results 1 - 5 of 5 for Gaucher disease
  1. Gaucher disease 
    Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
  2. PSAP gene 
    ... a disorder that resembles a severe form of Gaucher disease. Signs and symptoms of this condition include neurological ... as it does in the classic form of Gaucher disease. A few PSAP gene mutations have also been ...
    https://medlineplus.gov/genetics/gene/psap - Genetics
  3. GBA1 gene 
    ... GBA1 gene have been identified in people with Gaucher disease, a disorder with varied features that affect many ... Most of the GBA1 gene variants responsible for Gaucher disease change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/gba1 - Genetics
  4. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... hyperinsulinism Familial Mediterranean fever Fanconi anemia GRACILE syndrome Gaucher disease Glycogen storage disease type I Hereditary fructose intolerance ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  5. Legg-Calvé-Perthes disease 
    ... and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. J Bone Joint Surg Br. 2008 ...
    https://medlineplus.gov/.../condition/legg-calve-perthes-disease - Genetics