Gb3/creatinine biomarkers for Fabry disease: Issues to consider

Molecular Genetics and Metabolism

Volumn 97, Issue 3, 2009, Pages 237-

  Auray Blais, Christiane ^a   Millington, David S ^b   Barr, Caroline ^a   Young, Sarah P ^b   Mills, Kevin ^c   Clarke, Joe T R ^a  

^a UNIVERSITY OF SHERBROOKE   (Canada)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CREATININE; GLOBOTRIAOSYLCERAMIDE; PHOSPHATIDYLCHOLINE; SPHINGOMYELIN;

CREATININE URINE LEVEL; DIAGNOSTIC VALUE; FABRY DISEASE; GENETIC SCREENING; HEMIZYGOTE; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; LETTER; PHENOTYPE; PRIORITY JOURNAL; URINARY EXCRETION;

EID: 67349194732     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.04.006     Document Type: Letter

References (7)

1. 3 (globotriaosylceramide, CTH, GL3). Mol. Genet. Metab. 97 1 (2009) 91
2. Auray-Blais C., Cyr D., Mills K., Giguère R., and Drouin R. Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J. Inherit. Metab. Dis. 30 1 (2007) 106
3. Auray-Blais C., Cyr D., Ntwari A., West M.L., Cox-Brinkman J., Bichet D.G., Germain D.P., et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol. Genet. Metab. 93 3 (2008) 331-340
4. Auray-Blais C., Millington D.S., Young S.P., Clarke J.T.R., and Schiffmann R. Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J. Inherit. Metab. Dis. 32 (2009) 303-308
5. C. Barr, J.T.R. Clarke, A. Ntwari, R. Drouin, C. Auray-Blais, Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months, Mol. Genet. Metab., accepted for publication.
6. Mills K., Morris P., Lee P., Vellodi A., Waldek S., Young E., and Winchester B. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J. Inherit. Metab. Dis. 28 (2005) 35-48
7. Whitfield P.D., Calvin J., Hogg S., O'Driscoll E., Halsall D., Burling K., Maguire G., Wright N., Cox T.M., Meikle P.J., and Deegan P.B. Monitoring enzyme replacement therapy in Fabry disease - role of urine globotriaosylceramide. J. Inherit. Metab. Dis. 28 (2005) 21-33