Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family.
作者信息
Maire I, Nivelon-Chevallier A R
出版信息
J Inherit Metab Dis. 1981;4(4):221-3. doi: 10.1007/BF02263656.
PMID:6796775
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.
摘要
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