| Literature DB >> 1269411 |
K Harzer, H U Benz, H Knörr-Gärtner, W D Jonatha, K Knörr.
Abstract
Amniocentesis in the 17th week of pregnancy in a 23-year-old woman who had previously lost a child with enzymatically proven Krabbe's disease revealed normal activity in cell-free amniotic fluid. But in two amniotic cell cultures a 25% defect of cerebroside-beta-galactosidase was found. The prenatal diagnosis of Krabbe's disease was subsequently confirmed after abortion of the fetus by enzymatic and morphological examination (globoid cells in the spinal-cord sections).Entities:
Keywords: Abortion, Induced--indications; Amniocentesis--indications; Case Studies; Diseases; Embryo; Examinations And Diagnoses; Family Planning; Fertility Control, Postconception; Fetus; Genetic Technics; Hereditary Diseases; Histology; Laboratory Examinations And Diagnoses; Pregnancy; Reproduction; Research Methodology; Studies
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Year: 1976 PMID： 1269411 DOI： 10.1055/s-0028-1104178
Source DB: PubMed Journal: Dtsch Med Wochenschr ISSN： 0012-0472 Impact factor: 0.628