Literature DB >> 14303658

HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.

D HOEFNAGEL, E D ANDREW, N G MIREAULT, W O BERNDT.   

Abstract

Entities:  

Keywords:  ATHETOSIS; BLOOD; CHILD; CHOREA; COLORIMETRY; GENETICS, HUMAN; INFANT; SELF MUTILATION; SPECTROPHOTOMETRY; URIC ACID

Mesh:

Substances:

Year:  1965        PMID: 14303658     DOI: 10.1056/NEJM196507152730303

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  19 in total

1.  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

2.  Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness.

Authors:  B T Emmerson; L Thompson; D C Wallace; M A Spence
Journal:  Am J Hum Genet       Date:  1974-01       Impact factor: 11.025

3.  A specific enzyme defect in gout associated with overproduction of uric acid.

Authors:  W N Kelley; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1967-06       Impact factor: 11.205

4.  [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

5.  Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.

Authors:  B R Migeon
Journal:  Am J Hum Genet       Date:  1971-03       Impact factor: 11.025

6.  Juvenile gout.

Authors:  B L Treadwell
Journal:  Ann Rheum Dis       Date:  1971-05       Impact factor: 19.103

7.  Hyperuricosuric encephalopathy without hyperuricaemia.

Authors:  C Hooft; C Van Nevel; A F De Schaepdryver
Journal:  Arch Dis Child       Date:  1968-12       Impact factor: 3.791

8.  Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.

Authors:  M L Greene; W L Nyhan; J E Seegmiller
Journal:  Am J Hum Genet       Date:  1970-01       Impact factor: 11.025

9.  Inheritance of purine phosphoribosyltransferases in man.

Authors:  J F Henderson; W N Kelley; F M Rosenbloom; J E Seegmiller
Journal:  Am J Hum Genet       Date:  1969-01       Impact factor: 11.025

10.  Pathological and immunological observations in a case of Lesch-Nyhan-syndrome.

Authors:  R Bassermann; W Gutensohn; H Jahn; J S Springmann
Journal:  Eur J Pediatr       Date:  1979-10       Impact factor: 3.183

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