Abstract
Hunter syndrome, mucopolysaccharidosis type II, MPS-II, or iduronate-2-sulphatase deficiency is cause by deficiency of enzyme L-iduronate-2-sulphate. Hunter syndrome has two clinical subtypes. It shows X-linked recessive inheritance and is the only one of mucopolysacchariodosis in which the mother alone can pass the defective gene to the son.
Abstracted from Manara et al. (2014)
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Reference
Manara R, Concolino D, Rampazzo A, et al. Chiari 1 malformation and holocord syringomyelia in hunter syndrome. JIMD Rep. 2014;12:31–5.
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© 2016 Springer International Publishing Switzerland
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Eltorai, I.M. (2016). Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome. In: Rare Diseases and Syndromes of the Spinal Cord. Springer, Cham. https://doi.org/10.1007/978-3-319-45147-3_15
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DOI: https://doi.org/10.1007/978-3-319-45147-3_15
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