title: I-cell disease presenting with severe hypophosphatemia and cardiomyopathy.
authors.forename: G
authors.initials: G
authors.lastname: Bocca
authors.forename: C
authors.initials: C
authors.lastname: Noordam
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: J G
authors.initials: JG
authors.lastname: de Jong
authors.forename: W
authors.initials: W
authors.lastname: van der Meer
authors.forename: M H
authors.initials: MH
authors.lastname: de Keijzer
authors.forename: C R
authors.initials: CR
authors.lastname: Korver
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
mesh_terms: 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
chemical_list: D017855:Transferases (Other Substituted Phosphate Groups); C023222:UDPacetylglucosamine-dolichyl-phosphate acetylglucosamine-1-phosphate transferase