Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.
Stone
D L
DL
Tayebi
N
N
Coble
C
C
Ginns
E I
EI
Sidransky
E
E
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002318:Cardiovascular Diseases / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005355:Fibrosis; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology*; D007223:Infant; D008297:Male; D009154:Mutation; D009886:Ophthalmoplegia / Q000473:pathology*; D014781:Viscera / Q000473:pathology
D005962:Glucosylceramidase