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First-trimester prenatal diagnosis of Tay-Sachs disease.

The prenatal diagnosis of Tay-Sachs disease was made in two at-risk fetuses by the analysis of chorionic villi obtained at 9 and 11 menstrual weeks, respectively. The diagnoses were based on the absence of beta-hexosaminidase A activity as determined by: (1) specific enzyme assays, (2) anion-exchang...

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Hlavní autoři: Grabowski, G A, Kruse, J R, Goldberg, J D, Chockkalingam, K, Gordon, R E, Blakemore, K J, Mahoney, M J, Desnick, R J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1984
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684639/
https://ncbi.nlm.nih.gov/pubmed/6240199
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