Article
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Medicine - 1 Jul 2017
Choi Jin-Ho, Lee Beom Hee, Heo Sun Hee, Kim Gu-Hwan, Kim Yoo-Mi, Kim Dae-Seong, Ko Jung Min, Sohn Young Bae, Hong Yong Hee, Lee Dong-Hwan, Kook Hoon, Lim Han Hyuk, Kim Kyung Hee, Kim Woo-Shik, Hong Geu-Ru, Kim Su-Hyun, Park Sang Hyun, Kim Chan-Duck, Kim So Mi, Seo Jeong-Sook, Yoo Han-Wook
Abstract excerpt
Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study...
Topics
- Adolescent
- Age of Onset
- Aged
- Child
- Child, Preschool
- Diagnostic Errors
- Enzyme Replacement Therapy
- Fabry Disease
- Female