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

科研成果: Article › 同行评审

54 引用（Scopus）

摘要

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.

源语言	English
页（从-至）	688-94
页数	7
期刊	Clinical Chemistry
卷	51
期	4
DOI	https://doi.org/10.1373/clinchem.2004.041418
出版状态	Published - 4月 2005

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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 - Fuller, Maria

AU - Sharp, Peter C

AU - Rozaklis, Tina

AU - Blacklock, David

AU - Hopwood, John J

AU - Meikle, Peter J

AU - Whitfield, Phil

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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

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JO - Clinical Chemistry

JF - Clinical Chemistry

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Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes

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