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 |
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| Records Return:
(13)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM03392 | Female | 13 YR | 610 | sister | MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | GM |
| GM03391 | Male | 15 YR | 610 | proband | MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | GM |
| GM02558 | Female | 9 YR | 501 | sister | MUCOLIPIDOSIS IIIA | GM |
| GM02559 | Female | 7 YR | 501 | proband | MUCOLIPIDOSIS IIIA | GM |
| GM02273 | Male | 2 YR | 38 | proband | MUCOLIPIDOSIS II; ML2; ML II | GM |
| GM02013 | Male | 2 WK | 36 | proband | MUCOLIPIDOSIS II; ML2; ML II | GM |
| GM03066 | Female | 23 FW | 34 | proband | MUCOLIPIDOSIS II; ML2; ML II | GM |
| GM01494 | Female | 16 YR | 1012 | proband | MUCOLIPIDOSIS IIIA | GM |
| GM00113 | Female | 2 YR | | proband | MUCOLIPIDOSIS IIIA | GM |
| GM02065 | Male | 9 YR | | proband | MUCOLIPIDOSIS IIIA | GM |
| GM02425 | Male | 15 YR | | proband | MUCOLIPIDOSIS IIIA | GM |
| GM03685 | Male | 15 YR | | proband | MUCOLIPIDOSIS IIIA | GM |
| GM01759 | Male | 13 YR | | proband | MUCOLIPIDOSIS IIIA | GM |
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