Library

feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • 1975-1979  (1)
Material
Years
Year
  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A significant proportion of patients affected with fucosidosis have Italian ancestors. We assayed for α-fucosidase activity purified mononuclear cells and/or leukocytes obtained from 64 members of two large pedigrees from Calabria, in which seven children had been diagnosed as affected with fucosidosis. Of these 64 individuals, 22 were diagnosed as carriers, while the values for the remainder were within normal limits, indicating a clear bimodal distribution among individuals at risk. These data confirm that carrier detection for fucosidosis requires the measurement of α-L-fucosidase activity in purified mononuclear cells from peripheral blood. In addition, this program has made prenatal identification of an affected fetus possible.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...