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Possible prenatal diagnosis of type III glycogenosis.

Abstract
This paper reports the first prenatal diagnosis in a pregnancy at risk for type III glycogenosis using a reliable test for amylo-1,6-glucosidase in cultured amniotic fluid cells. This test, based upon the different rates of glycogen and phosphorylase limit dextrin hydrolysis, was found to be more reliable in detecting a deficiency of amylo-1,6-glucosidase activity than either phosphorylase limit dextrin hydrolysis alone or [14C]glucose incorporation using leukocytes and cultured cells.
AuthorsI Maire, M Mathieu
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 9 Issue 1 Pg. 89-91 ( 1986) ISSN: 0141-8955 [Print] United States
PMID2941619 (Publication Type: Journal Article)
Chemical References
  • Glycogen Debranching Enzyme System
  • Glucosyltransferases
Topics
  • Amniotic Fluid (cytology)
  • Cells, Cultured
  • Clinical Enzyme Tests
  • Female
  • Fibroblasts (enzymology)
  • Glucosyltransferases (metabolism)
  • Glycogen Debranching Enzyme System (metabolism)
  • Glycogen Storage Disease (diagnosis)
  • Glycogen Storage Disease Type III (diagnosis)
  • Humans
  • Leukocytes (enzymology)
  • Pregnancy
  • Prenatal Diagnosis
  • Risk

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