Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes

Maria Fuller, Peter C Sharp, Tina Rozaklis, David Blacklock, John J Hopwood, Peter J Meikle, Phil Whitfield

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50 Citations (Scopus)

Abstract

Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the lysosomal hydrolase, alpha-galactosidase, for which enzyme replacement therapy is now available. In this study, we aimed to identify Fabry heterozygotes not only for genetic counseling of families but because it is becoming increasingly obvious that many heterozygous (carrier) females are symptomatic and should be considered for treatment.
Original languageEnglish
Pages (from-to)688-94
Number of pages7
JournalClinical Chemistry
Volume51
Issue number4
DOIs
Publication statusPublished - Apr 2005

Keywords

  • Fabry Disease
  • Heterozygote
  • Homozygote
  • Humans
  • Lipids
  • Reproducibility of Results
  • Spectrometry, Mass, Electrospray Ionization

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    Fuller, M., Sharp, P. C., Rozaklis, T., Blacklock, D., Hopwood, J. J., Meikle, P. J., & Whitfield, P. (2005). Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes. Clinical Chemistry, 51(4), 688-94. https://doi.org/10.1373/clinchem.2004.041418