Concepedia

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

C. Filoni, Anna Caciotti, Laura Carraresi, Maria Alice Donati, Renzo Mignani, Rossella Parini, Mirella Filocamo, F Soliani, Lisa Simi, Renzo Guerrini,

European Journal of Human Genetics · 2008 · 38 citations · 19 references

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19

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

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Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease

Christine M. Eng, Nathalie Guffon, William R. Wilcox et al. · New England Journal of Medicine · 2001 · 1.5K citations · Full text

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Enzyme Replacement Therapy in Fabry Disease

Raphael Schiffmann, Jeffrey B. Kopp, Howard A. Austin et al. · JAMA · 2001 · 1.3K citations

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Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1

Shoichiro Nakao, Chihaya Kodama, Toshihiro Takenaka et al. · Kidney International · 2003 · 440 citations

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