Concepedia

Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease

Catia S. Pereira, Olga Azevedo, Maria Luz Maia, Ana F. Dias, Clara Sá-Miranda, M. Fátima Macedo

Molecular Genetics and Metabolism · 2013 · 42 citations · 25 references

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25

The metabolic and molecular bases of inherited disease

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

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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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Lysosomal Glycosphingolipid Recognition by NKT Cells

Dapeng Zhou, Jochen Mattner, Carlos Cantu et al. · Science · 2004 · 942 citations

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Functionally Distinct Subsets of CD1d-restricted Natural Killer T Cells Revealed by CD1d Tetramer Staining

Jenny E. Gumperz, Sachiko Miyake, Takashi Yamamura et al. · The Journal of Experimental Medicine · 2002 · 768 citations · Full text

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Johannes M. F. G. Aerts, J.E.M. Groener, Sijmen Kuiper et al. · Proceedings of the National Academy of Sciences · 2008 · 727 citations · Full text

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