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. © 1981 MTP Press Limited.
CITATION STYLE
Maire, I., & Nivelon-Chevallier, A. (1981). Combined deficiency of β-galactosidase and neuraminidase: Three affected siblings in a French family. Journal of Inherited Metabolic Disease, 4(1), 221–223. https://doi.org/10.1007/BF02263656
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