Is globotriaosylceramide a useful biomarker in Fabry disease?

Author:

Young E,Mills K,Morris P,Vellodi A,Lee P,Waldek S,Winchester B

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Mills, K and Johnson, A and Winchester, B. (2002) Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry FEBS Lett, 515, pp. 171 - 6.

2. Garman, S and Garboczi, D. (2004) The molecular defect leading to Fabry disease: structure of human α-galactosidase J Mol Biol, 337, pp. 319 - 35.

3. Desnick, R and Ioannou, Y and Eng, C.(2001) α-Galactosidase A deficiency: Fabry disease. In The metabolic and molecular basis of inherited disease8th ed. ( pp. 3733 - 74 ). New York : McGraw-Hill.

4. Sachdev, B and Elliott, P. (2002) Isolated cardiac manifestations in Fabry disease: the UK experience Acta Paediatr, 91, pp. 28 - 30. Suppl (439)

5. Ko, Y and Kim, H and Roh, Y and Park, C and Kwon, C and Park, M. (1996) Atypical Fabry's disease. An oligosymptomatic variant Arch Pathol Lab Med, 120, pp. 86 - 9.

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