Article
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
Orphanet journal of rare diseases - 11 Jan 2017
Chiong Mary Anne D, Canson Daffodil M, Abacan Mary Ann R, Baluyot Melissa Mae P, Cordero Cynthia P, Silao Catherine Lynn T
Abstract excerpt
BACKGROUND: Mucopolysaccharidosis 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. RESULTS: The mean age of the...
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