Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://www.springerlink.com/index/pdf/10.1007/s00431-012-1703-y
Reference50 articles.
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2. Bach G, Eisenberg F Jr, Cantz M, Neufeld EF (1973) The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci USA 70:2134–2138
3. Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ (2010) Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet 47:38–48
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