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Prenatal monitoring for wolman's disease in a pregnancy at risk

✍ Scribed by Helene Christomanou; Claudia Čáp


Publisher
Springer
Year
1981
Tongue
English
Weight
125 KB
Volume
57
Category
Article
ISSN
0340-6717

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Fifteen pregnancies at risk for Lesch-Nyhan syndrome were investigated between 8 and 17 weeks' gestation by measurement of hypoxanthine-guanine phosphoribosyl transferase (HGPRT) and adenine phosphoribosyl transferase (APRT) enzyme activities in chorionic villus samples (cultured and uncultured) or