Article
Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype.
Journal of inherited metabolic disease - 1 Jan 1993
Hopwood J J, Vellodi A, Scott H S, Morris C P, Litjens T, Clements P R, Brooks D A, Cooper A, Wraith J E
Abstract excerpt
Two mucopolysaccharidosis type I (MPS-I) patients, subjected to bone marrow transplantation (BMT) more than 10 years ago, have recently had their alpha-L-iduronidase genotypes defined. Both patients, homozygous for the relatively common W402X mutation, received BMT when they were 14 and 11 months of age, and are now 12 and 14 years old, respectively. Untreated MPS-I patients, homozygous for W402X, have an...
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