Document Detail

Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods.
MedLine Citation:
PMID:  823094     Owner:  NLM     Status:  MEDLINE    
Prenatal diagnoses were established in 3 pregnancies at risk for GM1-gangliosidosis at 9, 10, and 12 days after amniocentesis. Beta-galactosidase activities in cultured amniotic fluid cells were determined by microchemical assays in cell homogenates and in isolated groups of 10--30 freeze-dried cells. The latter method requires only a few hundred cells growing in one or more clones and will usually allow a diagnosis within 9--12 days after amniocentesis.
W J Kleijer; E Van der Veer; M F Niermeijer
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human genetics     Volume:  33     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1976 Aug 
Date Detail:
Created Date:  1976-12-01     Completed Date:  1976-12-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  299-305     Citation Subset:  IM    
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MeSH Terms
Galactosidases / analysis*
Gangliosidoses / diagnosis*
Microchemistry / methods
Prenatal Diagnosis
Reg. No./Substance:
EC 3.2.1.-/Galactosidases

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