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Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus.
Galactosylceramide beta-galactosidase activity was assayed in cultured amniotic fluid cells from two pregnancies at risk for Krabbe's leucodystrophy. The elective termination of one pregnancy was carried out after demonstration of a severe deficiency of galactosylceramide beta-galactosidase act...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
1978
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC492965/ https://ncbi.nlm.nih.gov/pubmed/621534 |
| Ετικέτες: |
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