I-cell disease presenting with severe hypophosphatemia and cardiomyopathy.
Bocca
G
G
Noordam
C
C
Wevers
R A
RA
de Jong
J G
JG
van der Meer
W
W
de Keijzer
M H
MH
Korver
C R
CR
Smeitink
J A
JA
D009202:Cardiomyopathies / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D017674:Hypophosphatemia / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D009081:Mucolipidoses / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D017855:Transferases (Other Substituted Phosphate Groups) / Q000172:deficiency / Q000235:genetics
D017855:Transferases (Other Substituted Phosphate Groups); C023222:UDPacetylglucosamine-dolichyl-phosphate acetylglucosamine-1-phosphate transferase