The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.
Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)
Abstract
Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a step in the catabolism of glycosaminoglycans. In patients with mucopolysaccharidosis II, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and symptoms of the disease. Mucopolysaccharidosis II affects multiple organs and physiologic systems and has a variable age of onset and variable rate of progression. Common presenting features include excess urinary glycosaminoglycan excretion, facial dysmorphism, organomegaly, joint stiffness and contractures, pulmonary dysfunction, myocardial enlargement and valvular dysfunction, and neurologic involvement. In patients with neurologic involvement, intelligence is impaired, and death usually occurs in the second decade of life, whereas those patients with minimal or no neurologic involvement may survive into adulthood with normal intellectual development. Enzyme replacement therapy has emerged as a new treatment for mucopolysaccharidosis disorders, including Hunter syndrome. The purpose of this report is to provide a concise review of mucopolysaccharidosis II for practitioners with the hope that such information will help identify affected boys earlier in the course of their disease.
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Cites
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Cited by
Ullman, J. C., Arguello, A., Getz, J. A., Bhalla, A., Mahon, C. S., Wang, J., Giese, T., Bedard, C., Kim, D. J., Blumenfeld, J. R., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aay1163 · Cited by 205
Calias, P., Papisov, M., Pan, J., Savioli, N., Belov, V., Huang, Y., Lotterhand, J., Alessandrini, M., Liu, N., Fischman, A. J., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0030341 · Cited by 133
Metadata
- Authors
- Martin, R., Beck, M., Eng, C., Giugliani, R., Harmatz, P., Muñoz, V., & Muenzer, J.
- Venue
- Pediatrics
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2008-02-01
- Volume
- 121
- Issue
- 2
- Pages
- e377-e386
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- OpenAlex
- W2034511507
- Cited by
- 314
- References
- 41
- FWCI
- 12.47
- Type
- journal article
- Language
- en
- Open access
- closed
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- Martin, R., Beck, M., Eng, C., Giugliani, R., Harmatz, P., Muñoz, V., & Muenzer, J. (2008). Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome). Pediatrics. https://doi.org/10.1542/peds.2007-1350
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