Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype.

doi:10.1007/BF00711520

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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...

Topics

Adolescent
Bone Marrow Transplantation
Child
Female
Follow-Up Studies
Genotype
Homozygote
Humans
Iduronidase
Infant
Male
Mucopolysaccharidosis I

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