International Center for Fabry Disease

References

Reviews

  1. Desnick RJ, Ioannou YA, Eng CM. Fabry Disease: a-galactosidase A deficiency. In: Scriver C, Beaudet A, Sly W, Vaele D editors. The Molecular and Metabolic Basis of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995; 2741-2784.
  2. Desnick RJ editor. Treatment of genetic diseases. New York; Churchill Livingstone; 1991; 331pp.
  3. Desnick RJ, Bishop DF. Fabry disease: a-Galactosidase deficiency and Schindler disease: a-N-acetylgalactosaminidase deficiency. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS editors. The Metabolic Basis of Inherited Disease, 6th ed. New York, NY; McGraw-Hill; 1989; p 1751.
  4. Bishop DF, Kornreich R, Eng CM, Ioannou YA, Fitzmaurice TF, Desnick RJ. Human a-galactosidase: Characterization and eukaryotic expression of the full-length cDNA and structural organization of the gene. In: Salvayre R, Douste-Blazy L, Gatt S editors. Lipid Storage Disorders. New York: Plenum Publishing Corporation; 1988; p 809.
  5. Desnick RJ, Sweeley CC. Fabry's disease: Defective a-galactosidase A. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS editors. The Metabolic Basis of Inherited Disease, 5th ed. New York, NY: McGraw-Hill; 1983; p 906.
  6. Desnick RJ editor. Enzyme Therapy in Genetic Diseases 2. New York; Alan R. Liss; 1980.
  7. Desnick RJ, Allen KY, Simmons RL, Woods JE, Anderson CF, Najarian JS, Krivit W. Fabry disease: Correction of the enzymatic deficiency by renal transplantation. In: Desnick RJ, Bernlohr RW, Krivit W editors. Enzyme Therapy in Genetic Diseases. Baltimore, MD: Williams and Wilkins; 1973; p 88.
  8. Desnick RJ, Sweeley CC. Prenatal detection of Fabry's disease. In: Dorfman A editor. Antenatal Diagnosis. Chicago, IL: Univ. of Chicago Press; 1971; p 185.