Combined deficiency of β-galactosidase and neuraminidase: Three affected siblings in a French family
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- Maire, I. & Nivelon-Chevallier, A. J Inherit Metab Dis (1981) 4: 221. doi:10.1007/BF02263656
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Three affected siblings from France have been described with a combined deficiency of β-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.