Long-Term Effect of Enzyme Replacement Therapy with Fabry Disease
نویسندگان
چکیده
منابع مشابه
Long-Term Effect of Enzyme Replacement Therapy with Fabry Disease
Objective. To determine the effects of enzyme replacement therapy (ERT) on the hearing acuity in patients with Fabry disease. Materials. The study sample comprised 34 ears of 17 affected patients who underwent pure-tone audiometry before and after ERT. Methods. The patients were studied in relation to factors such as changes in hearing, presence of accompanying symptoms, status of renal and car...
متن کاملLong Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.
Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase A enzyme has been well-established retarding the progression of a multisystemic disease and organ involvement. De...
متن کاملLong Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease
Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase A enzyme has been well-established retarding the progression of a multisystemic disease and organ involvement. De...
متن کاملSuccessful long-term enzyme replacement therapy in a young adult with Fabry disease.
To the Editor : Fabry disease (FD) is an X-linked lysosomal storage disorder with a deficiency of α-galactosidase A (AGLA), leading to accumulation of globotriaosylceramide (Gb3) mainly in the lysosomes. The clinical manifestations of FD show inter-individual variations, and the time between the onset of symptoms and a correct diagnosis is around 13 years (1), including symptoms such as hypohid...
متن کاملEnzyme replacement therapy for Anderson-Fabry disease.
BACKGROUND Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement. Survival is reduced among affected males and symptomatic female carriers. OBJECTIVES To evaluate the effectiveness and safety of enzyme replacement therapy compare...
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ژورنال
عنوان ژورنال: International Journal of Otolaryngology
سال: 2013
ISSN: 1687-9201,1687-921X
DOI: 10.1155/2013/282487