| Literature DB >> 31142708 |
Toya Ohashi1,2.
Abstract
Fabry disease is characterized by deficient activity of α-galactosidase A, which results in accumulation of glycolipids, such as globotriaosylceremide, in various tissue. Clinical symptoms are varied. In childhood, pain in extremities, hypohidrosis, and angiokeratoma are main symptoms, In adulthood, renal, cardiac and cerebrovascular symptoms are occurred In past, only symptomatic treatments were available. In early 2000th, enzyme replacement therapy was developed after positive results of clinical trials. Ten years after approval, the data of long term safety and efficacy of enzyme replacement.Entities:
Keywords: Fabry disease; agalsidase alpha; agalsidasse beta; enzyme replacement therapy; pharmacological chaperon
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Year: 2019 PMID: 31142708 DOI: 10.5692/clinicalneurol.cn-001246
Source DB: PubMed Journal: Rinsho Shinkeigaku ISSN: 0009-918X