Varki A, Reitman ML, Vannier A, Kornfeld S, Grubb JH, Sly WS, Demonstration of the heterozygous state for I-cell disease and pseudo- Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts. Am J Hum Genet34:717-29 1982
PubMed ID: 6289658

Records Return:  (9) Show
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM02558Female9 YR501sisterMUCOLIPIDOSIS IIIA
GM02559Female7 YR501probandMUCOLIPIDOSIS IIIA
GM00080Female16 YR34motherMUCOLIPIDOSIS II; ML2; ML II
GM00081Male23 YR34fatherMUCOLIPIDOSIS II; ML2; ML II
GM02046Female25 YR1909motherMUCOLIPIDOSIS II; ML2; ML II
GM02047Male26 YR1909fatherMUCOLIPIDOSIS II; ML2; ML II
GM01590Female 1908motherMUCOLIPIDOSIS II; ML2; ML II
GM01589Male 1908fatherMUCOLIPIDOSIS II; ML2; ML II