Concepedia

Screening for Fabry Disease in Patients with Chronic Kidney Disease

Jason G. Andrade, Paula J. Waters, Rajvir Singh, Adeera Levin, Bee-Chin Toh, Hilary Vallance, Sandra Sirrs

Clinical Journal of the American Society of Nephrology · 2007 · 62 citations · 19 references

DOI

Abstract

Clinicians need to be aware that screening using plasma will fail to detect some patients with Fabry disease.

References

19

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

Enzyme Replacement Therapy in Fabry Disease

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

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 988 citations · Full text

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Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Atul Mehta, Renato Pietro Ricci, Urs Widmer et al. · European Journal of Clinical Investigation · 2004 · 835 citations · Full text

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

Shoichiro Nakao, Toshihiro Takenaka, Masato Maeda et al. · New England Journal of Medicine · 1995 · 761 citations · Full text