Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3)

Molecular Genetics and Metabolism

Volumn 97, Issue 1, 2009, Pages 91-

  Forni, Sabrina ^a   Fu, Xiaowei ^a   Schiffmann, Raphael ^a   Sweetman, Lawrence ^a  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATININE; GLOBOTRIAOSYLCERAMIDE;

CREATININE URINE LEVEL; FABRY DISEASE; HETEROZYGOTE; HUMAN; LETTER; MASS SPECTROMETRY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCREENING TEST; URINE LEVEL; URINE VOLUME;

ADOLESCENT; AGED; CHILD; CHILD, PRESCHOOL; CREATININE; FALSE POSITIVE REACTIONS; HUMANS; INFANT; INFANT, NEWBORN; MIDDLE AGED; TRIHEXOSYLCERAMIDES;

EID: 63449141054     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.01.011     Document Type: Letter

References (4)

1. Zarate Y.A., and Hopkin R.J. Fabry's disease. Lancet 372 9647 (2008) 1427-1435
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. MGM 93 3 (2008) 331-340
4. Elkins H.B., Pagnotto L.D., and Smith H.L. Concentration adjustment in urinalysis. Am Ind Hyg Ass J 35 (1974) 559-565