Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

200559 citationsJournal Articlebronze Open Access

Authors

Maria Fuller · Lysosomal Therapeutics (United States)

P. Sharp · Women's and Children's Hospital

Tina Rozaklis · Lysosomal Therapeutics (United States)

Phillip D. Whitfield · Lysosomal Therapeutics (United States)

David Blacklock · Lysosomal Therapeutics (United States)

John J. Hopwood · Lysosomal Therapeutics (United States)

Peter J. Meikle

Abstract

These lipid profiles hold particular promise for the identification of Fabry individuals, may aid in the prediction of phenotype, and are potentially useful for the monitoring of therapy in patients receiving enzyme replacement.

Topics & Keywords

Lysosomal Storage Disorders Research Biomedical Research and Pathophysiology Glycogen Storage Diseases and Myoclonus

Publication Details

Published in: Clinical Chemistry

Volume 51, Issue 4, pp. 688-694

DOI: 10.1373/clinchem.2004.041418

Field-Weighted Citation Impact: 1.92

Command Palette

Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

Authors

Abstract

Topics & Keywords

Publication Details