Coexistence of Gaucher disease type 1 and Joubert syndrome.
van Royen-Kerkhof
A
A
Poll-The
B T
BT
Kleijer
W J
WJ
van Diggelen
O P
OP
Aerts
J M
JM
Hopwood
J J
JJ
Beemer
F A
FA
D002478:Cells, Cultured; D002526:Cerebellar Diseases / Q000150:complications* / Q000201:enzymology; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000150:complications*; D005962:Glucosylceramidase / Q000172:deficiency; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome
D005962:Glucosylceramidase