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Article: Gross motor development of children with Hurler syndrome after umbilical cord blood transplantation.(Research Report)(Clinical report)
- Article from:
- Physical Therapy
- Article date:
- November 1, 2007
- Author:
CopyrightCOPYRIGHT 2007 American Physical Therapy Association, Inc. This material is published under license from the publisher through the Gale Group, Farmington Hills, Michigan. All inquiries regarding rights should be directed to the Gale Group. (Hide copyright information)
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Hurler syndrome is the most severe form of mucopolysaccharidosis type I, which results from an inborn error of metabolism and has an incidence of approximately 1.19 per 100,000 live births. (1,2) Children diagnosed with Hurler syndrome have a deficiency of a single enzyme, alpha-L-iduronidase, which is responsible for breaking down the glycosaminoglycans heparan sulfate and dermatan sulfate. The resulting accumulation of glycosaminoglycans throughout the body causes somatic, central nervous system, and musculoskeletal system impairments. (2)
Children diagnosed with Hurler syndrome typically have multiple clinical signs that may include retarded growth, coarse ...