Additional Information

Organizations

The National Gaucher Foundation
5410 Edson Lane
Suite 220
Rockville, Maryland 20852
Phone: 301.593.1452
Toll Free: 800.504.3189
URL: http://gaucherdisease.org

Pamphlets

• Living With Gaucher Disease: A Guide for Patients, Parents, Relatives, and Friends. (1991) By Genzyme Corporation, One Kendall Square, Cambridge, Massachusetts, 02139
  Phone: 1.800.745.4447
• Gaucher Disease: Current Issues in Diagnosis and Treatment. A National Institutes of Health Technology Assessment Conference Statement, February 27–March 1, 1995. Available from the NIH Office of Medical Applications of Research, Federal Building, Room 618, 7550 Wisconsin Avenue, MSC 9120, Bethesda, Maryland, 20892-9120.
• Current Bibliographies in Medicine: Gaucher Disease. The National Library of Medicine, June 1984–January 1995. By Marian E. Beratan and Ellen Sidransky. Order from the Superintendent of Documents, U.S. Government Printing Office, P.O. Box 371554, Pittsburgh, PA., 15250-7954: Title: CBM number 95-1 or GPO list ID #CBM95).

Articles

• "Gaucher’s Disease: Phillipe Charles Ernest Gaucher" by C. Allan Birch. In Practitioner, Vol. 210, April 1973. Page 580.
• "Gaucher Disease (1882-1982): Centennial Perspectives on the Most Prevalent Jewish Genetic Disease" by Robert J. Desnick. In Mount Sinai Journal of Medicine, Vol. 49, No. 6, November-December 1982. Pp. 443-455.
• "Gaucher’s Disease" by Ernest Beutler. In New England Journal of Medicine, Vol. 325, November 7, 1991. Pp. 1354-1357.

Dr. Brady's Articles

• "Cerebroside Synthesis in Gaucher’s Disease" by Eberhard G. Trams and Roscoe O. Brady. In Journal of Clinical Investigation, Vol. 39, 1960. Pp. 1546-1550.
• "Metabolism of Glucocerebrosides, I: Purification and Properties of a Glucocerebroside-cleaving Enzyme from Spleen Tissue" by Roscoe O. Brady, Julian N. Kanfer, and David Shapiro. In Journal of Biological Chemistry, Vol. 240, 1965. Pp. 39-42.
• "Metabolism of Glucocerebrosides, II: Evidence of an Enzymatic Deficiency in Gaucher’s Disease" by Roscoe O. Brady, Julian N. Kanfer, and David Shapiro. In Biochemical and Biophysical Research Communications, Vol. 18, No. 2, 1965. Pp. 221-225.
• "Demonstration of a Deficiency of Glucocerebroside-cleaving Enzyme in Gaucher’s Disease," by Roscoe O. Brady, Julian N. Kanfer, Roy M. Bradley, and David Shapiro. In Journal of Clinical Investigation, Vol. 45, 1966. Pp. 1112-1115.
• "Diagnosis of Gaucher’s Disease and Niemann-Pick Disease Using Small Samples of Venous Blood" by John P. Kampine, Roscoe O. Brady, Julian N. Kanfer, Minna Feld, and David Shapiro. In Science, Vol. 153, 1967. Pp. 86-88.
• "Identification of Heterozygous Carriers of Lipid Storage Diseases" by Roscoe O. Brady, William G. Johnson, and B.William Uhlendorf. In American Journal of Medicine, Vol. 51, 1971. Pp.423-31.
• "Infantile (Type II) Gaucher’s Disease: In Utero Diagnosis and Fetal Pathology" by Edward L. Schneider, William G. Ellis, Roscoe O. Brady, J.R. McCulloch, and Charles J. Epstein. In Journal of Pediatrics, Vol. 81, 1972. Pp. 1134-1139.
• "Replacement Therapy for Inherited Enzyme Deficiency: Use of Purified Glucocerebrosidase in Gaucher’s Disease" by Roscoe O. Brady, Peter G. Pentchev, Andrew E. Gal, Sue R. Hibbert, and Anatole S. Dekaban. In New England Journal of Medicine, No. 291, November 7, 1974. Pp. 989-993.
• "Enzyme Replacement Therapy in Gaucher’s Disease: Large-scale Purification of Glucocerebrosdiase Suitable for Human Administration" by F. Scott Furbish, Henry E. Blair, Joseph Shiloach, Peter G. Pentchev, and Roscoe O. Brady. In Proceedings of the National Academy of Sciences, USA, Vol. 74, No. 8, August 1977. Pp. 3560-3563.
• "Therapeutic Response to Intravenous Infusions of Glucocerebrosdiase in a Patient with Gaucher Disease" by Norman W. Barton, F. Scott Furbish, Gary J. Murray, Mark Garfield, and Roscoe O. Brady. In Proceedings of the National Academy of Sciences, USA, Vol. 87, March 1990. Pp. 1913-1916.
• "Replacement Therapy for Inherited Enzyme Deficiency: Macrophage-Targeted Glucocerebrosidase for Gaucher’s Disease" by Norman W. Barton, Roscoe O. Brady, James M. Dambrosia, Adrian M. Di Bisceglie, Samuel H. Doppelt, Suvimol C. Hill, Henry J. Mankin, Gary J. Murray, Robert I. Parker, Charles E. Argoff, Raji P. Grewal, Kian-Ti Yu, and collaborators. In New England Journal of Medicine, Vol. 324, May 23, 1991. Pp. 1464-1470.
• "Development of Effective Enzyme Therapy for Metabolic Storage Disorders" by Roscoe O. Brady and Norman W. Barton. In International Pediatrics, Vol. 9, No. 3, 1994. Pages 175-180.
• "Enzyme Replacement Therapy for Gaucher Disease: Critical Investigations Beyond Demonstration of Clinical Efficacy" by Roscoe O. Brady and Norman W. Barton. In Biochemical Medicine and Metabolic Biology, Vol. 52, 1994. Pp. 1-9.
• "Development of Effective Enzyme Replacement Therapy for Hereditary Metabolic Disorders" by Roscoe O. Brady. In Resident and Staff Physician, Vol. 41, No. 8, August 1995. Pp. 38-40.