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Early Prenatal Diagnosis in Two Pregnancies at Risk for Glutaryl-CoA Dehydrogenase Deficiency

✍ Scribed by E. Holme,M. Kyllerman,S. Lindstedt


Book ID
126336814
Publisher
Springer
Year
1989
Tongue
English
Weight
448 KB
Volume
12
Category
Article
ISSN
0141-8955

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PRENATAL DIAGNOSIS BY ENZYME ANALYSIS IN
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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