Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk.

Zoref-Shani, E

Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk. [electronic resource] - Prenatal diagnosis Sep 1989 - 657-61 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0197-3851

10.1002/pd.1970090909 doi


Adenine Phosphoribosyltransferase--metabolism
Amniotic Fluid--enzymology
Azaguanine--pharmacology
Brain--enzymology
Chorionic Villi--enzymology
Chorionic Villi Sampling
Female
Humans
Hypoxanthine Phosphoribosyltransferase--metabolism
Lesch-Nyhan Syndrome--diagnosis
Muscles--enzymology
Pregnancy
Prenatal Diagnosis
Purines--metabolism
Skin--enzymology