Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-005-5263-4
Reference19 articles.
1. Avila JL, Convit J, Velazquez-Avila G (1973) Fabry’s disease: normal α-galactosidase activity and urinary sediment glycosphingolipid levels in two obligate heterozygotes. Br J Dermatol 89: 149–157.
2. Berná L, Asfaw B, Conzelmann E, Cerny B, Ledvinova J (1999) Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin layer chromatographies. Anal Biochem 269: 304–311.
3. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaew AL, Laster L (1967) Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med 276: 1163–1167.
4. Bishop DF, Calhoun DH, Bernstein HS, Hantzopoulos P, Quinn M, Desnick RJ (1986) Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci USA 83: 4859–4863.
5. Boscaro F, Pieraccini G, la Marca G, et al (2002) Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease. Rapid Commun Mass Spectrom 16: 1507–1514.
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