Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

BACKGROUND/AIMS: Fabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening. METHODS:...

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Detalles Bibliográficos
Autores principales: Kim, Jeong-Yup, Hyun, Young-Youl, Lee, Ji-Eun, Yoon, Hye-Ran, Kim, Gu-Hwan, Yoo, Han-Wook, Cho, Seong-Tae, Chun, No-Won, Jeoung, Byoung-Chunn, Kim, Hwa-Jung, Kim, Keong-Wook, Kim, Seong-Nam, Kim, Yung-A, Lee, Hyun-Ah, Lee, Jong-Young, Lee, Yung-Chun, Lim, Hun-Kwan, Oh, Keong-Sik, Son, Seong-Hwan, Yu, Beong-Hee, Wee, Kyeong-So, Lee, Eun-Jong, Lee, Young-Ki, Noh, Jung-Woo, Kim, Seung-Jung, Choi, Kyu-Bok, Yu, Suk-Hee, Pyo, Heui-Jung, Kwon, Young-Joo
Formato: Texto
Lenguaje:English
Publicado: The Korean Association of Internal Medicine 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2997971/
https://www.ncbi.nlm.nih.gov/pubmed/21179280
http://dx.doi.org/10.3904/kjim.2010.25.4.415

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