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Gaucher cells
- ... impaired balance and coordination (postural instability). People with Gaucher disease (described above) have variants in both copies of the GBA1 gene in each cell, while those with a variant in just one ...
- ... of these substances, causing the characteristic features of Gaucher disease. GBA1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with ...
- ... a disorder that resembles a severe form of Gaucher disease. Signs and symptoms of this condition include ... as it does in the classic form of Gaucher disease. A few PSAP gene mutations have also ...
- ... hyperinsulinism Familial Mediterranean fever Fanconi anemia GRACILE syndrome Gaucher disease Glycogen storage disease type I Hereditary fructose ... Sialic acid storage disease , including Salla disease Sickle cell disease , also called sickle cell anemia Sjögren-Larsson ...
- ... and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. J Bone Joint Surg ...
