1. Scriver, C. R., Kaufman, S. & Woo, S. L. C. in The Metabolic Basis of Inherited Disease 6th Edn 495–546 (McGraw–Hill, New York, 1989).
2. Cohen, B. E., Bodonyi, E. & Szeinberg, A. Lancet i, 344 (1961).
3. Cohen, B. E., Szeinberg, A., Boichis, H. & Bodonyi . Pediatrics 32, 1069–1073 (1963).
4. Cohen, B. E. et al. Monogr. hum. Genet. 9, 95–101 (1978).
5. Lidsky, A. S. et al. Am. J. hum. Genet 37, 619–634 (1985).