A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
<p>Abstract</p> <p>Background</p> <p>Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with...
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| Автори: | , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2012-06-01
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| Серія: | BMC Cardiovascular Disorders |
| Предмети: | |
| Онлайн доступ: | http://www.biomedcentral.com/1471-2261/12/39 |
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