Literature DB >> 779428

Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).

J E Seegmiller.   

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Year:  1976        PMID： 779428     DOI： 10.1007/978-1-4615-8264-9_2

Source DB:  PubMed          Journal:  Adv Hum Genet        ISSN： 0065-275X


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  11 in total

1.  Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

Authors:  R A Gravel; K F Lam; K J Scully; Y Hsia
Journal:  Am J Hum Genet       Date:  1977-07       Impact factor: 11.025

2.  Genetic effects of griseofulvin on plant cell cultures.

Authors:  F L Schiavo; V N Ronchi; M Terzi
Journal:  Theor Appl Genet       Date:  1980-01       Impact factor: 5.699

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.  Genetic epidemiology of Lesch-Nyhan disease.

Authors:  N E Morton; J M Lalouel
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

5.  Monitoring of the mitochondrial and plasma membrane potentials in human fibroblasts by tetraphenylphosphonium ion distribution.

Authors:  M Rugolo; G Lenaz
Journal:  J Bioenerg Biomembr       Date:  1987-12       Impact factor: 2.945

6.  Biochemical genetics of HPRT Cape Town: is the defect in the HPRT gene?

Authors:  T Galloon; E H Harley
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

7.  Developmental expression of murine HPRT. I. Activities, heat stabilities, and electrophoretic mobilities in adult tissues.

Authors:  Y F Lo; R M Palmour
Journal:  Biochem Genet       Date:  1979-08       Impact factor: 1.890

8.  Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

Authors:  G Rijksen; G E Staal; M J van der Vlist; F a Beemer; J Troost; W Gutensohn; J P van Laarhoven; C H de Bruyn
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  Molecular and tissue-specific heterogeneity in HPRT deficiency.

Authors:  M P Uitendaal; C H de Bruyn; T L Oei; P Hösli
Journal:  Biochem Genet       Date:  1978-12       Impact factor: 1.890

10.  Disassembly of microtubules in the Lesch-Nyhan Syndrome? (Lesch-Nyhan syndrome and microtubules).

Authors:  W Schneider; E Morgenstern; H J Reimers
Journal:  Klin Wochenschr       Date:  1979-02-15
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