Gaucher disease with oculomotor apraxia and cardiovascular calcification.
Uyama
E
E
D001072:Apraxias / Q000209:etiology*; D001483:Base Sequence / Q000235:genetics; D002114:Calcinosis / Q000209:etiology* / Q000473:pathology; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics; D005962:Glucosylceramidase / Q000235:genetics; D006349:Heart Valve Diseases / Q000209:etiology* / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009801:Oculomotor Muscles / Q000503:physiopathology*
D005962:Glucosylceramidase