mucopolysaccharidosis vii/dyspnea

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Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma.

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METHODS A case study with review of surgical technique in craniovertebral stabilization for young children with mucopolysaccharidosis. OBJECTIVE To describe an interesting patient with a rare metabolic disorder and review surgical technique for craniovertebral instability in this rare patient

Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation.

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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

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