DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
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 Invest 1981;
67 (05) 1574-1579
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