Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
<p>Abstract</p> <p>Background</p> <p>Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder pheno...
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| Автори: | , , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2011-06-01
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| Серія: | Diagnostic Pathology |
| Онлайн доступ: | http://www.diagnosticpathology.org/content/6/1/47 |
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