Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome

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• 作者：Mary Anne D. Chiong ; Daffodil M. Canson&#8230
• 关键词：Mucopolysaccharidosis type II ; Hunter syndrome ; Iduronate ; 2 ; sulfatase gene ; Lysosomal storage disease ; Glycosaminoglycans
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：12
• 期：1
• 全文大小：1006KB
• 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Human Genetics;
• 出版者：BioMed Central
• ISSN：1750-1172
• 卷排序：12

文摘

BackgroundMucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives.