Buscar
Mostrando ítems 1-10 de 63
Hypoxanthine-guanine phosphoribosyltransferase from Mycobacterium tuberculosis H37Rv: Cloning, expression, and biochemical characterization
(Academic Press Inc. Elsevier B.V., 2009-08-01)
Human tuberculosis (TB) is a major cause of morbidity and mortality worldwide, especially in poor and developing countries. Moreover, the emergence of Mycobacterium tuberculosis strains resistant to first- and second-line ...
Hypoxanthine-guanine phosphoribosyltransferase from Mycobacterium tuberculosis H37Rv: Cloning, expression, and biochemical characterization
(Academic Press Inc. Elsevier B.V., 2009-08-01)
Human tuberculosis (TB) is a major cause of morbidity and mortality worldwide, especially in poor and developing countries. Moreover, the emergence of Mycobacterium tuberculosis strains resistant to first- and second-line ...
Hypoxanthine-guanine phosphoribosyltransferase from Mycobacterium tuberculosis H37Rv: Cloning, expression, and biochemical characterization
(Academic Press Inc. Elsevier B.V., 2014)
A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant
(Academic Press Inc Elsevier Science, 2004-04)
The hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is an inborn error of purine metabolism, responsible for classic Lesch-Nyhan disease and its neurological and hyperuricemic variants. We report a novel ...
Lesch-Nyhan disease and its variants: Phenotypic and mutation spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase deficiency in Argentine patients
(Scielo, 2021-03)
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) ...
Biochemical and structural characterization of the hypoxanthine-guanine-xanthine phosphoribosyltransferase from Pyrococcus horikoshii
(Elsevier Science BvAmsterdamHolanda, 2008)
Schistosoma mansoni: Evaluation of an RNAi-based treatment targeting HGPRTase gene
(Academic Press Inc. Elsevier B.V., 2008-04-01)
Hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) is an essential gene of the parasite Schistosoma mansoni and it is well conserved in its hosts (mouse and human) at the protein but not at the RNA level. This feature ...
Schistosoma mansoni: Evaluation of an RNAi-based treatment targeting HGPRTase gene
(Academic Press Inc. Elsevier B.V., 2008-04-01)
Hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) is an essential gene of the parasite Schistosoma mansoni and it is well conserved in its hosts (mouse and human) at the protein but not at the RNA level. This feature ...
Kelley-seegmiller syndrome : urolithiasis, renal uric acid deposits, and gout : What is the role of the urologist?
Kelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting ...
Schistosoma mansoni: Evaluation of an RNAi-based treatment targeting HGPRTase gene
(Academic Press Inc. Elsevier B.V., 2014)