Lesch-Nyhan Syndrome: Preventive Control by Prenatal Diagnosis
- 14 August 1970
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 169 (3946), 688-689
- https://doi.org/10.1126/science.169.3946.688
Abstract
The Lesch-Nyhan syndrome was detected in a fetus at a time sufficiently early to allow termination of the pregnancy. The feasibility of a preventive program for control of a severe sex-linked neurological disease through prenatal diagnosis is thus demonstrated.Keywords
This publication has 9 references indexed in Scilit:
- [17] Preparation and processing of small samples of human materialPublished by Elsevier ,1971
- Role of Amniocentesis in the Intrauterine Detection of Genetic DisordersNew England Journal of Medicine, 1970
- Substrate Stabilization: Genetically Controlled Reciprocal Relationship of Two Human EnzymesScience, 1970
- Lesch-Nyhan Mutation: Prenatal Detection with Amniotic Fluid CellsScience, 1969
- X-linked uric aciduria with neurological disease and self-mutilation: Diagnostic test for the enzyme defectThe Journal of Pediatrics, 1968
- Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism: Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of goutThe Journal of Pediatrics, 1968
- Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine SynthesisScience, 1967
- A familial disorder of uric acid metabolism and central nervous system functionThe American Journal of Medicine, 1964
- Gene Action in the X-chromosome of the Mouse (Mus musculus L.)Nature, 1961