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

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 phenotypi...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2017
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521888/ https://www.ncbi.nlm.nih.gov/pubmed/28723748 http://dx.doi.org/10.1097/MD.0000000000007387

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