Article
Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation.
Bone marrow transplantation - 1 Mar 1998
Yamada Y, Kato K, Sukegawa K, Tomatsu S, Fukuda S, Emura S, Kojima S, Matsuyama T, Sly W S, Kondo N, Orii T
Abstract excerpt
A 12-year-old girl with Sly disease (mucopolysaccharidosis VII; beta-glucuronidase deficiency), who is homozygous for the A619V mutation, had a successful allogeneic BMT, donored by an HLA-identical unrelated female to replace the deficient enzyme. Within 5 months after BMT, the enzyme activity of the recipient's lymphocytes increased to normal range. No signs of acute or chronic GVHD were observed. For the...
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