C
Christine M. Eng
Researcher at Icahn School of Medicine at Mount Sinai
Publications - 30
Citations - 4633
Christine M. Eng is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Fabry disease & Population. The author has an hindex of 22, co-authored 30 publications receiving 4463 citations. Previous affiliations of Christine M. Eng include City University of New York & Kagoshima University.
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Journal ArticleDOI
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.
Christine M. Eng,Nathalie Guffon,William R. Wilcox,Dominique P. Germain,Philip J. Lee,S. Waldek,Louis R. Caplan,Gabor E. Linthorst,Robert J. Desnick +8 more
TL;DR: Recombinant alpha-galactosidase A replacement therapy cleared microvascular endothelial deposits of globotriaosylceramide from the kidneys, heart, and skin in patients with Fabry's disease, reversing the pathogenesis of the chief clinical manifestations of this disease.
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Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Shoichiro Nakao,Chihaya Kodama,Chihaya Kodama,Toshihiro Takenaka,Toshihiro Takenaka,Akihiro Tanaka,Akihiro Tanaka,Yuichiro Yasumoto,Yuichiro Yasumoto,Aichi Yoshida,Aichi Yoshida,Tamotsu Kanzaki,Tamotsu Kanzaki,Annette L.D. Enriquez,Annette L.D. Enriquez,Christine M. Eng,Christine M. Eng,Hiromitsu Tanaka,Hiromitsu Tanaka,Chuwa Tei,Chuwa Tei,Robert J. Desnick,Robert J. Desnick +22 more
TL;DR: The clinical spectrum of Fabry disease includes a "renal variant" phenotype in patients without classic symptoms who develop ESRD, and affected males undergoing hemodialysis or renal transplantation can be readily diagnosed by plasma alpha-Gal A assays.
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A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies.
Christine M. Eng,Maryam Banikazemi,Ronald E. Gordon,Martin E. Goldman,Robert G. Phelps,Leona Kim,Alan Gass,Jonathan A. Winston,Steven Dikman,John T. Fallon,Scott E. Brodie,Charles B. Stacy,Davendra Mehta,Rosaleen Parsons,Karen I. Norton,Michael O'Callaghan,Robert J. Desnick +16 more
TL;DR: A single-center, open-label, dose-ranging study of r-halphaGalA treatment in 15 patients, each of whom received five infusions at one of five dose regimens provides the basis for a phase 3 trial of enzyme-replacement therapy for Fabry disease.
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An atypical variant of Fabry's disease with manifestations confined to the myocardium.
von Scheidt W,Christine M. Eng,T.F. Fitzmaurice,Erdmann E,Hübner G,Olsen Eg,Christomanou H,Kandolf R,David F. Bishop,Robert J. Desnick +9 more
TL;DR: The cardiac manifestations result from the accumulation of globotriaosylceramide in the myocytes, leading to myocardial failure; in coronary endothelial cells, resulting .
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Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.
Andrea Frustaci,Cristina Chimenti,Roberta Ricci,Luigi Natale,Matteo Antonio Russo,Maurizio Pieroni,Christine M. Eng,Robert J. Desnick +7 more
TL;DR: Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism caused by deficient activity of α-galactosidase A, a lysosomal exoglycosidase, which causes the characteristic angiokeratomas, acroparesthesias, hypohidrosis, and corneal opacities of Faby's disease.