Literature DB >> 4646561

A new HGPRT-deficient phenotype?

S Kelly, E J Hart, L Desjardins.   

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Year:  1972        PMID: 4646561      PMCID: PMC1469071          DOI: 10.1136/jmg.9.4.482

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  16 in total

1.  Seminars on Lesch-Nyhan syndrome. Aspects of purine metabolism.

Authors:  M E Balis
Journal:  Fed Proc       Date:  1968 Jul-Aug

2.  X-linked uric aciduria with neurological disease and self-mutilation: diagnostic test for the enzyme defect.

Authors:  W Y Fujimoto; M L Greene; J E Seegmiller
Journal:  J Pediatr       Date:  1968-12       Impact factor: 4.406

3.  Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.

Authors:  W N Kelley
Journal:  Fed Proc       Date:  1968 Jul-Aug

4.  Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.

Authors:  J Dancis; P H Berman; V Jansen; M E Balis
Journal:  Life Sci       Date:  1968-06-15       Impact factor: 5.037

5.  Diagnostic test for congenital hyperuricemia with central nervous system dysfunction.

Authors:  P H Berman; M E Balis; J Dancis
Journal:  J Lab Clin Med       Date:  1968-02

6.  Lesch-Nyhan syndrome treated from the early neonatal period.

Authors:  J F Marks; J Baum; D K Keele; J L Kay; A MacFarlen
Journal:  Pediatrics       Date:  1968-08       Impact factor: 7.124

7.  X-linked primary hyperuricaemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy.

Authors:  F E Dreifuss; D S Newcombe; S L Shapiro; G L Sheppard
Journal:  J Ment Defic Res       Date:  1968-06

8.  Hyperuricemia and mental retardation with athetosis and self-mutilation.

Authors:  W M Michener
Journal:  Am J Dis Child       Date:  1967-02

9.  A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency.

Authors:  E Beutler
Journal:  Blood       Date:  1966-10       Impact factor: 22.113

10.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Authors:  J E Seegmiller; F M Rosenbloom; W N Kelley
Journal:  Science       Date:  1967-03-31       Impact factor: 47.728

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