General reference sources

Most of these general references can be found or ordered at your local bookstore:

Batshaw, M.L. (1991) Your Child Has a Disability: A Complete Sourcebook of Daily and Medical Care. Little Brown Press.

Featherstone, H. (1980) A Difference in the Family. Basic Books.

Kushner, H. (1983) When Bad Things Happen to Good People. Avon Press.

Milunsky, A. (1992) Heredity and Your Family's Health. Johns Hopkins University Press.

The Exceptional Parent Magazine: Parenting Your Child or Young Adult with a Disability. A monthly magazine for families and professionals.

The Home Care Book: A Parent's Guide to Caring for Children with Progressive Neurological Diseases (1994) National Tay-Sachs & Allied Diseases Association, Brookline, MA.

A Genetics Primer for Understanding Tay-Sachs and the Allied Diseases(1995). National Tay-Sachs & Allied Diseases Association, Brookline, MA.

American College of Medical Genetics Board of Directors. Position statement on carrier testing for Canavan disease. Bethesda, Maryland: January 10, 1998.

American College of Obstetricians and Gynecologists. Screening for Tay-Sachs disease. ACOG Committee Opinion 162. Washington, DC ACOG, 1995.

Technical references

Most of these technical references are available in large university or medical school libraries :

Bennett, M., Gibson, K., Sherwood, W., Divry, P., Rolland, M., Elpeleg, O., Rinaldo, P., and Jakobs, C. Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis. J.Inherit.Metab.Dis.1993;16:831-836.

Kaul, R., Gao, G., Matalon, R., Aloya, M., Su, Q., Jin, M., Johnson, A., Schutgens, R., and Clarke, J. Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. Am.J.Hum.Genet. 1996;59:95-102.

Kronin, D., Oddoux C., Philips J., and Ostrer H. Prevalence of canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am.J.Hum.Genet. 1995; 57: 1250-1252.

Matalon, R. Michals, K., and Kaul, R. Canavan disease: From spongy degeneration to molecular analysis, J.of  Pediatr. 1995;127:511-517.

Scriver, Charles et al (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th ed. McGraw Hill, Inc. Chapter on Canavan Disease.




This bibliography was compiled by Ed Ratner, M.D. and Judith Tsipis, Ph.D. for National Tay-Sachs and Allied Diseases Association (1995). Revised 1997 & 1998