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Case Reports
. 1981;4(4):221-3.
doi: 10.1007/BF02263656.

Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family

I Maire, A R Nivelon-Chevallier
Case Reports

Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family

I Maire et al. J Inherit Metab Dis. 1981.

Abstract

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.

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