Failure to diagnose Lesch‐Nyhan syndrome by first trimester chorionic villus sampling
- 1 June 1989
- journal article
- Published by Wiley in Prenatal Diagnosis
- Vol. 9 (6) , 452-453
- https://doi.org/10.1002/pd.1970090620
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
- Maternal cell contamination in chorionic villus samples assessed by direct preparations and three different culture methodsPrenatal Diagnosis, 1988
- First trimester diagnosis of lesch‐nyhan syndrome: Applications to other disorders of purine metabolismPrenatal Diagnosis, 1985
- FIRST-TRIMESTER DIAGNOSIS OF LESCH-NYHAN SYNDROMEThe Lancet, 1984
- Increased de novo Purine Synthesis in Cultured Skin Fibroblasts from Heterozygotes for the Lesch-Nyhan SyndromeHuman Heredity, 1979
- Abnormal Property of Human Mutant Hypoxanthine‐Guanine Phosphoribosyltransferase: Insensitivity of Fibroblast Enzyme to Stabilization against Freezing and Thawing by 5‐Phosphoribosyl‐1‐PyrophosphateEuropean Journal of Clinical Investigation, 1974