Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

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

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.

Affiliation

Choi JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine Asan Institute for Life Sciences Medical Genetics Center, Asan Medical Center Children's Hospital, Seoul Department of Pediatrics, Pusan National University Children's Hospital Department of Neurology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan Department of Pediatrics, Seoul National University Children's Hospital, Seoul Department of

Medicine (Baltimore) ; 96(29): e7387, 2017 Jul.

Article in En | MEDLINE | ID: mdl-28723748

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fabry Disease / Alpha-Galactosidase / Mutation Type of study: Diagnostic_studies / Incidence_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged / Newborn Country/Region as subject: Asia Language: En Journal: Medicine (Baltimore) Year: 2017 Document type: Article Country of publication: Estados Unidos

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