Publication

Reitman ML, Varki A, Kornfeld S, Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N- acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J Clin Invest67:1574-9 1981
PubMed ID: 6262380

Records Return:  (13) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM03392Female13 YR610sisterMUCOLIPIDOSIS III, COMPLEMENTATION GROUP C
GM03391Male15 YR610probandMUCOLIPIDOSIS III, COMPLEMENTATION GROUP C
GM02558Female9 YR501sisterMUCOLIPIDOSIS IIIA
GM02559Female7 YR501probandMUCOLIPIDOSIS IIIA
GM02273Male2 YR38probandMUCOLIPIDOSIS II; ML2; ML II
GM02013Male2 WK36probandMUCOLIPIDOSIS II; ML2; ML II
GM03066Female23 FW34probandMUCOLIPIDOSIS II; ML2; ML II
GM01494Female16 YR1012probandMUCOLIPIDOSIS IIIA
GM00113Female2 YR probandMUCOLIPIDOSIS IIIA
GM02065Male9 YR probandMUCOLIPIDOSIS IIIA
GM02425Male15 YR probandMUCOLIPIDOSIS IIIA
GM03685Male15 YR probandMUCOLIPIDOSIS IIIA
GM01759Male13 YR probandMUCOLIPIDOSIS IIIA