Maire I, Nivelon-Chevallier A R
J Inherit Metab Dis. 1981;4(4):221-3. doi: 10.1007/BF02263656.
Three affected siblings from France have been described with a combined deficiency of beta-galactosidase and neuraminidase. Oligosaccharides were found in urine and the enzyme activities determined in leukocytes and cultured fibroblasts. Further characterization of the defect in this family is needed.