Gb3/creatinine biomarkers for Fabry disease: Issues to consider

被引：16

作者：

Auray-Blais, Christiane ^{[1
]}

Millington, David S. ^{[2
]}

Barr, Caroline ^{[1
]}

Young, Sarah P. ^{[2
]}

Mills, Kevin ^{[3
]}

Clarke, Joe T. R. ^{[1
]}

机构：

[1] Univ Sherbrooke, Dept Pediat, Fac Med & Hlth Sci, Sherbrooke, PQ J1H 5N4, Canada

[2] Duke Univ, Ctr Med, Div Med Genet, Dept Pediat, Durham, NC 27713 USA

[3] UCL, Biochem Endocrinol & Metab Unit, Inst Child Hlth, London WC1N 1EH, England

来源：

MOLECULAR GENETICS AND METABOLISM | 2009年 / 97卷 / 03期

关键词：

GLOBOTRIAOSYLCERAMIDE; MASS; CTH;

D O I：

10.1016/j.ymgme.2009.04.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：237 / 237

页数：1

共 7 条

[1] Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease [J].

Auray-Blais, C. ;

Cyr, D. ;

Mills, K. ;

Giguere, R. ;

Drouin, R. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (01) :106-106

[2] Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease [J].

Auray-Blais, C. ;

Millington, D. S. ;

Young, S. P. ;

Clarke, J. T. R. ;

Schiffmann, R. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2009, 32 (02) :303-308

[3] Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease [J].

Auray-Blais, Christiane ;

Cyr, Denis ;

Ntwari, Aime ;

West, Michael L. ;

Cox-Brinkman, Josanne ;

Bichet, Daniel G. ;

Germain, Dominique P. ;

Laframboise, Rachel ;

Melancon, Serge B. ;

Stockley, Tracy ;

Clarke, Joe T. R. e ;

Drouin, Regen .

MOLECULAR GENETICS AND METABOLISM, 2008, 93 (03) :331-340

[4]

BARR C, MOL GENET M IN PRESS

[5] Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3) [J].

Forni, Sabrina ;

Fu, Xiaowei ;

Schiffmann, Raphael ;

Sweetman, Lawrence .

MOLECULAR GENETICS AND METABOLISM, 2009, 97 (01) :91-91

[6] Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease [J].

Mills, K ;

Morris, P ;

Lee, P ;

Vellodi, A ;

Waldek, S ;

Young, E ;

Winchester, B .

JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 (01) :35-48

[7] Monitoring enzyme replacement therapy in Fabry disease - Role of urine globotriaosylceramide [J].

Whitfield, PD ;

Calvin, J ;

Hogg, S ;

O'Driscoll, E ;

Halsall, D ;

Burling, K ;

Maguire, G ;

Wright, N ;

Cox, TM ;

Meikle, PJ ;

Deegan, PB .

JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 (01) :21-33

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