1. McKusick VA (1988) Mendelian inheritance in man, 8th edn. Johns Hopkins University Press, Baltimore
2. Beaudet AL, Scriver CR, Sly WS, Valle D (1989) Genetics and biochemistry of variant human phenotypes. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 3–164
3. Galjaard H (1980) Genetic metabolic diseases: early diagnosis and prenatal analysis. Elsevier, Amsterdam
4. Kaback MM (1981) Heterozygote screening and prenatal diagnosis in Tay-Sachs disease, a world-wide update. In: Callahan JW, Lowden M (eds) Lysosomes and lysosomal storage diseases. New York, Raven, pp 331–342
5. Rosatelli MC, Tuveri T, Scalas MT, DiTucci A, Leoni GB et al (1988) Prenatal diagnosis of fl-thalassaemia by oligonucleotide analysis in Mediterranean populations. J Med Genet 25: 762–765