Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
about
Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan diseaseFructose Intake, Serum Uric Acid, and Cardiometabolic Disorders: A Critical Review.Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome.Purine metabolism in normal and thioguanine-resistant neuroblastoma.Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.Purification of IMP:pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease.Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.Uricosuric agents decrease the plasma urate level in rats by concomitant treatment with topiroxostat, a novel xanthine oxidoreductase inhibitor.The genetic framework for development of nephrolithiasis.
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P2860
Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 1970
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Mechanism of excessive purine ...... ribosyltransferase deficiency.
@en
Mechanism of excessive purine ...... ribosyltransferase deficiency.
@nl
type
label
Mechanism of excessive purine ...... ribosyltransferase deficiency.
@en
Mechanism of excessive purine ...... ribosyltransferase deficiency.
@nl
prefLabel
Mechanism of excessive purine ...... ribosyltransferase deficiency.
@en
Mechanism of excessive purine ...... ribosyltransferase deficiency.
@nl
P2860
P356
P1476
Mechanism of excessive purine ...... ribosyltransferase deficiency.
@en
P2093
Sorensen LB
P2860
P304
P356
10.1172/JCI106316
P407
P577
1970-05-01T00:00:00Z