References

1. Desnick, R.J.; Ioannou, Y.A.; Eng, C.M. a-Galactosidase A Deficiency: Fabry Disease. In The Metabolic and Molecular Bases of Inherited Disease, 8th Ed.; Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., Eds.; McGraw-Hill: New York, 2001; Vol. III, 3733-3774.

2. MacDermot, K.D.; Holmes, A.; Miners, A.H. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J. Med. Genet. 2001, 38 (11), 750-760.

3. Nakao, S.; Takenaka, T.; Maeda, M.; Kodama, C.; Tanaka, A.; Tahara, M.; Yoshida, A.; Kuriyama, M.; Hayashibe, H.; Sakuraba, H.; Tanaka, H. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N. Engl. J. Med. 1995, 333 (5), 288-293.

4. Whybra, C.; Wendrich, K.; Ries, M.; Gal, A.; Beck, M. Clinical manifestation in female Fabry disease patients. Contrib. Nephrol. 2001, 136, 245-250.

5. MacDermot, K.D.; Holmes, A.; Miners, A.H. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J. Med. Genet. 2001, 38 (11), 769-775.

6. Mayes, J.S.; Scheerer, J.B.; Sifers, R.N.; Donaldson, M.L. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease. Clin. Chim. Acta 1981, 112, 247-251.

7. Vance, D.E.; Sweeley, C.C. Quantitative determination of the neutral glycosyl ceramides in human blood. J. Lipid Res. 1967, 8 (6), 621-630.

8. McCluer, R.H.; Ullman, M.D.; Jungalwala, F.B. Highperformance liquid chromatography of membrane lipids: Glycosphingolipids and phospholipids. Methods Enzymol. 1989, 172, 538 - 575.

9. Zeidner, K.M.; Desnick, R.J.; Ioannou, Y.A. Quantitative determination of globotriaosylceramide by immunodetec-tion of glycolipid-bound recombinant verotoxin B subunit. Anal. Biochem. 1999, 267 (1), 104-113.

10. Mills, K.; Johnson, A.; Winchester, B. Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. FEBS Lett. 2002, 515 (1-3), 171176.

11. Bishop, D.F.; Kornreich, R.; Desnick, R.J. Structural organization of the human alpha-galactosidase A gene: Further evidence for the absence of a 3' untranslated region. Proc. Natl. Acad. Sci. U. S. A. 1988, 85 (11), 39033907.

12. Kornreich, R.; Desnick, R.J.; Bishop, D.F. Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res. 1989, 17 (8), 3301-3302.

13. Bishop, D.F.; Calhoun, D.H.; Bernstein, H.S.; Hantzopou-los, P.; Quinn, M.; Desnick, R.J. Human alpha-galactosidase

A: Nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc. Natl. Acad. Sci. U. S. A. 1986, 83 (13), 4859-4863.

14. Ploos van Amstel, J.K.; Jansen, R.P.; de Jong, J.G.; Hamel, B.C.; Wevers, R.A. Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease. Hum. Mol. Genet. 1994, 3 (3), 503-505.

15. Garman, S.C.; Garboczi, D.N. Structural basis of Fabry disease. Mol. Genet. Metab. 2002, 77 (1-2), 3-11.

16. Schiffmann, R.; Kopp, J.B.; Austin, H.A.; Sabnis, S.; Moore, D.F.; Weibel, T.; Balow, J.E.; Brady, R.O. Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 2001, 285 (21), 2743-2749.

17. Eng, C.M.; Guffon, N.; Wilcox, W.R.; Germain, D.P.; Lee, P.; Waldeck, S.; Caplan, L.; Linthorst, G.E.; Desnick, R.J. Safety and efficacy of recombinant human a-galactosidase A replacement therapy in Fabry's disease. N. Engl. J. Med. 2001, 345 (1), 9-16.

18. Pastores, G.M.; Thadhani, R. Enzyme-replacement therapy for Anderson-Fabry disease. Lancet 2001, 358 (9282), 601 -603.

19. Frustaci, A.; Chimenti, C.; Ricci, R.; Natale, L.; Russo, M.A.; Eng, C.M.; Desnick, R.J. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N. Engl. J. Med. 2001, 345 (1), 25-32.

20. Abe, A.; Gregory, S.; Lee, L.; Killen, P.D.; Brady, R.O.; Kulkarni, A.; Shayman, J.A. Reduction of globotriaosyl-ceramide in Fabry disease mice by substrate deprivation. J. Clin. Invest. 2000, 105 (11), 1563-1571.

21. Ziegler, R.J.; Yew, N.S.; Li, C.; Cherry, M.; Berthelette, P.; Romanczuk, H.; Ioannou, Y.A.; Zeidner, K.M.; Desnick, R.J.; Cheng, S.H. Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Hum. Gene Ther. 1999, 10 (10), 1667-1682.

22. Takenaka, T.; Murray, G.J.; Qin, G.; Quirk, J.M.; Ohshima, T.; Qasba, P.; Clark, K.; Kulkarni, A.B.; Brady, R.O.; Medin, J.A. Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc. Natl. Acad. Sci. U. S. A. 2000, 97 (13), 7515-7520.

23. Park, J.; Murray, G.J.; Limaye, A.; Quirk, J.M.; Gelder-man, M.P.; Brady, R.O.; Qasba, P. Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer. Proc. Natl. Acad. Sci. U. S. A. 2003, 100 (6), 3450-3454.

Facioscapulohumeral Muscular Dystrophy

Meena Upadhyaya David N. Cooper

University of Wales College of Medicine, Cardiff, U.K.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook


Post a comment