Literature DB >> 5464303

Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.

J A Boyle, K O Raivio, K H Astrin, J D Schulman, M L Graf, J E Seegmiller, C B Jacobsen.   

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.

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Year:  1970        PMID： 5464303     DOI： 10.1126/science.169.3946.688

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  13 in total

1.  Developmental changes in purine phosphoribosyltransferases in human and rat tissues.

Authors:  A Adams; R A Harkness
Journal:  Biochem J       Date:  1976-12-15       Impact factor: 3.857

Review 2.  Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.

Authors:  J E Seegmiller
Journal:  Ann Rheum Dis       Date:  1980-04       Impact factor: 19.103

3.  Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods.

Authors:  P Hösli; C H de Bruyn; F J Oerlemans; M Verjaal; R E Nobrega
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

4.  Prenatal diagnosis and genetic counselling.

Authors:  D J Brock
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

5.  Selective abortion, gametic selection, and the X chromosome.

Authors:  G R Fraser
Journal:  Am J Hum Genet       Date:  1972-07       Impact factor: 11.025

6.  [Lesch-Nyhan syndrome. Heterozygote detection by biochemical selection of the mutant cells and autoradiography].

Authors:  A M Hagemeijer; P Dodinval; J M Andrien
Journal:  Humangenetik       Date:  1972

Review 7.  Molecular variation in relation to purine metabolism.

Authors:  R W Watts
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

Review 8.  Antenatal detection of genetic enzyme defects.

Authors:  P F Benson
Journal:  Proc R Soc Med       Date:  1971-11

9.  "Inborn errors of metabolism" and "chemical individuality", two ideas of Sir Archibald Garrod briefly revisited 50 years after his death.

Authors:  G R Burgio
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

10.  Purine metabolism in normal and thioguanine-resistant neuroblastoma.

Authors:  A W Wood; M A Becker; J D Minna; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1973-12       Impact factor: 11.205
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