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Journal of Inherited Metabolic Disease
|
May 6, 2015
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis
R J Torres, J G Puig
QJM : Monthly Journal of the Association of Physicians
|
February 18, 2003
Familial juvenile hyperuricaemic nephropathy
J G Puig, R J Torres
QJM : Monthly Journal of the Association of Physicians
|
June 23, 2004
Familial juvenile hyperuricaemic nephropathy
J G Puig, R J Torres
Nucleosides, Nucleotides & Nucleic Acids
|
July 5, 2008
The diagnosis of HPRT deficiency in the 21st century
R J Torres, J G Puig
Revista Clinica Espanola
|
May 28, 2014
From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics
M Trigueros Genao, R J Torres
European Journal of Clinical Investigation
|
September 22, 2007
Hypoxanthine decreases equilibrative type of adenosine transport in lymphocytes from Lesch-Nyhan patients
C Prior, R J Torres, J G Puig
Nucleosides, Nucleotides & Nucleic Acids
|
October 27, 2006
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients
R J Torres, C Prior, J G Puig
Nucleosides, Nucleotides & Nucleic Acids
|
October 27, 2006
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome
C Prior, R J Torres, J G Puig
Nucleosides, Nucleotides & Nucleic Acids
|
June 15, 2010
Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region
M G Garcia, R J Torres, J G Puig
Nucleosides, Nucleotides & Nucleic Acids
|
June 15, 2010
Partial HPRT deficiency phenotype and incomplete splicing mutation
R J Torres, M G Garcia, J G Puig
Page
of 5
Search research articles
Search
Showing results (1-10 of 49) with videos related to
Sort By:
Page
of 5
Journal of Inherited Metabolic Disease
|
May 6, 2015
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis
R J Torres, J G Puig
QJM : Monthly Journal of the Association of Physicians
|
February 18, 2003
Familial juvenile hyperuricaemic nephropathy
J G Puig, R J Torres
QJM : Monthly Journal of the Association of Physicians
|
June 23, 2004
Familial juvenile hyperuricaemic nephropathy
J G Puig, R J Torres
Nucleosides, Nucleotides & Nucleic Acids
|
July 5, 2008
The diagnosis of HPRT deficiency in the 21st century
R J Torres, J G Puig
Revista Clinica Espanola
|
May 28, 2014
From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics
M Trigueros Genao, R J Torres
European Journal of Clinical Investigation
|
September 22, 2007
Hypoxanthine decreases equilibrative type of adenosine transport in lymphocytes from Lesch-Nyhan patients
C Prior, R J Torres, J G Puig
Nucleosides, Nucleotides & Nucleic Acids
|
October 27, 2006
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients
R J Torres, C Prior, J G Puig
Nucleosides, Nucleotides & Nucleic Acids
|
October 27, 2006
Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome
C Prior, R J Torres, J G Puig
Nucleosides, Nucleotides & Nucleic Acids
|
June 15, 2010
Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region
M G Garcia, R J Torres, J G Puig
Nucleosides, Nucleotides & Nucleic Acids
|
June 15, 2010
Partial HPRT deficiency phenotype and incomplete splicing mutation
R J Torres, M G Garcia, J G Puig
Page
of 5