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

doi:10.1373/clinchem.2004.041418

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

Research output: Contribution to journal › Article › peer-review

53 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 language	English
Pages (from-to)	688-94
Number of pages	7
Journal	Clinical Chemistry
Volume	51
Issue number	4
DOIs	https://doi.org/10.1373/clinchem.2004.041418
Publication status	Published - Apr 2005

Keywords

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

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10.1373/clinchem.2004.041418

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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.",

keywords = "Fabry Disease, Heterozygote, Homozygote, Humans, Lipids, Reproducibility of Results, Spectrometry, Mass, Electrospray Ionization",

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AU - Sharp, Peter C

AU - Rozaklis, Tina

AU - Blacklock, David

AU - Hopwood, John J

AU - Meikle, Peter J

AU - Whitfield, Phil

PY - 2005/4

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N2 - 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.

AB - 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.

KW - Fabry Disease

KW - Heterozygote

KW - Homozygote

KW - Humans

KW - Lipids

KW - Reproducibility of Results

KW - Spectrometry, Mass, Electrospray Ionization

U2 - 10.1373/clinchem.2004.041418

DO - 10.1373/clinchem.2004.041418

M3 - Article

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SP - 688

EP - 694

JO - Clinical Chemistry

JF - Clinical Chemistry

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ER -

Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes

Abstract

Keywords

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