Journal of Inherited Metabolic Disease

, Volume 4, Issue 1, pp 221–223 | Cite as

Combined deficiency of β-galactosidase and neuraminidase: Three affected siblings in a French family

  • I. Maire
  • A. Nivelon-Chevallier


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.


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Copyright information

© MTP Press Limited 1981

Authors and Affiliations

  • I. Maire
    • 1
  • A. Nivelon-Chevallier
    • 2
  1. 1.Laboratoire d'EnzymologieService de Biochimie, Hôpital DebrousseLyon, Cedex 1France
  2. 2.Service de GénétiqueHôpital du BocageDijonFrance

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