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Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.

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第一作者： G,Serebrinsky

第一单位： Labgen, Buenos Aires, Argentina.

作者： G,Serebrinsky ^[1] ; M,Calvo ^[2] ; S,Fernandez ^[3] ; S,Saito ^[4] ; K,Ohno ^[5] ; E,Wallace ^[6] ; D,Warnock ^[6] ; H,Sakuraba ^[7] ; J,Politei ^[8]

作者单位： Labgen, Buenos Aires, Argentina. ^[1] Nephrology Department, Hospital Zonal General de Agudos Evita, Buenos Aires, Argentina. ^[2] Nephrology Department, Centro Médico CIPERCA, Catamarca, Argentina. ^[3] Department of Medical Management and Informatics, Hokkaido Information University, Ebetsu, Hokkaido, Japan. ^[4] Department of Research, Not-for-Profit Organization for the Promotion of Research on Intellectual Property Tokyo, Chiyoda, Tokyo, Japan. ^[5] Department of Medicine, University of Alabama, Birmingham, AL, United States. ^[6] Department of Clinical Genetics, Meiji Pharmaceutical University, Kiyose, Tokyo, Japan. ^[7] Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN), Buenos Aires, Argentina. ^[8]

关键词 Fabry disease GLA variants Late onset variants Lyso-Gb3

DOI 10.1016/j.ymgmr.2015.05.006

PMID 26937405

发布时间 2020-09-29

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Molecular genetics and metabolism reports

2015年4卷

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Molecular genetics and metabolism reports

2015年4卷

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Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.

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Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.

Molecular genetics and metabolism reports

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