J G Puig

Summary

Country: Spain

Publications

  1. ncbi Asymptomatic hyperuricemia: impact of ultrasonography
    J G Puig
    Divisions of Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 27:592-5. 2008
  2. ncbi Metabolic syndrome characteristics in gout patients
    J M Fraile
    Division of Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 29:325-9. 2010
  3. ncbi Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients
    M G Garcia
    Divisions of Clinical Biochemistry and Internal Medicine, La Paz University Hospital, Madrid, Spain
    Brain Behav Immun 23:1125-31. 2009
  4. ncbi The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families
    J G Puig
    La Paz University Hospital, Divisions of Internal Medicine, Madrid, Spain
    Medicine (Baltimore) 80:102-12. 2001
  5. ncbi Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region
    M G Garcia
    Divisions of Clinical Biochemistry and Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 29:301-5. 2010
  6. ncbi Serum urate, metabolic syndrome, and cardiovascular risk factors. A population-based study
    J G Puig
    Divisions of Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 27:620-3. 2008
  7. ncbi Uric acid metabolism in patients with primary gout and the metabolic syndrome
    J M Fraile
    Division of Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 29:330-4. 2010
  8. ncbi Partial HPRT deficiency phenotype and incomplete splicing mutation
    R J Torres
    Divisions of Clinical Biochemistry and Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 29:295-300. 2010
  9. ncbi The diagnosis of HPRT deficiency in the 21st century
    R J Torres
    Division of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 27:564-9. 2008
  10. ncbi An unusual patient with hypothyroidism, tophaceous gout, and marked joint destruction
    F Montoya
    Divisions of Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 27:604-7. 2008

Collaborators

Detail Information

Publications16

  1. ncbi Asymptomatic hyperuricemia: impact of ultrasonography
    J G Puig
    Divisions of Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 27:592-5. 2008
    ..The presence of tophi was unrelated to the known duration of hyperuricemia (mean, 5 years). Ultrasonography allows detection of tophi and inflammation in a third and in a fourth, respectively, of asymptomatic hyperuricemic patients...
  2. ncbi Metabolic syndrome characteristics in gout patients
    J M Fraile
    Division of Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 29:325-9. 2010
    ..5 mg/dl) and without (8.1 mg/dl). Given the complications associated with metabolic syndrome, its diagnosis may determine the long-term treatment of patients with gout...
  3. ncbi Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients
    M G Garcia
    Divisions of Clinical Biochemistry and Internal Medicine, La Paz University Hospital, Madrid, Spain
    Brain Behav Immun 23:1125-31. 2009
    ....
  4. ncbi The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families
    J G Puig
    La Paz University Hospital, Divisions of Internal Medicine, Madrid, Spain
    Medicine (Baltimore) 80:102-12. 2001
    ....
  5. ncbi Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region
    M G Garcia
    Divisions of Clinical Biochemistry and Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 29:301-5. 2010
    ..Thus, some other genetic alteration must explain a reduced enzyme activity with a normal gene coding region...
  6. ncbi Serum urate, metabolic syndrome, and cardiovascular risk factors. A population-based study
    J G Puig
    Divisions of Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 27:620-3. 2008
    ..01). Serum urate was not independently associated with CRP levels. This study shows that serum urate levels are associated with the presence of MS and each of its features...
  7. ncbi Uric acid metabolism in patients with primary gout and the metabolic syndrome
    J M Fraile
    Division of Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 29:330-4. 2010
    ..42 mg/mg in patients with gout and mild MS and 0.33 mg/mg in gout patients with severe MS. Uric acid underexcretion appears to be more severe in gout patients with the MS. This disturbance appears to be related to the severity of the MS...
  8. ncbi Partial HPRT deficiency phenotype and incomplete splicing mutation
    R J Torres
    Divisions of Clinical Biochemistry and Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 29:295-300. 2010
    ..It is possible that the amount of normally splice mRNA vary among different tissues...
  9. ncbi The diagnosis of HPRT deficiency in the 21st century
    R J Torres
    Division of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 27:564-9. 2008
    ....
  10. ncbi An unusual patient with hypothyroidism, tophaceous gout, and marked joint destruction
    F Montoya
    Divisions of Internal Medicine, La Paz University Hospital, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 27:604-7. 2008
    ....
  11. ncbi Hypoxanthine decreases equilibrative type of adenosine transport in lymphocytes from Lesch-Nyhan patients
    C Prior
    Laboratório de Bioquímica Clínica, La Paz University Hospital, Paseo Castellana 261, Madrid, Spain
    Eur J Clin Invest 37:905-11. 2007
    ..The aim of this study was to determine adenosine transporter subtypes affected by HPRT deficiency and by the associated hypoxanthine excess...
  12. ncbi Metabolic syndrome: prevalence, associated factors, and C-reactive protein: the MADRIC (MADrid RIesgo Cardiovascular) Study
    Maria A Martinez
    Department of Internal Medicine, Hospital Infanta Sofia, Madrid, Spain
    Metabolism 57:1232-40. 2008
    ..Some sociodemographic and lifestyle factors, particularly educational level, are predictors for MS and high CRP levels...
  13. ncbi Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation
    J G Puig
    Division of Internal Medicine, Hospital Universitario La Paz, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 25:1295-300. 2006
    ..When a mutation is found, family members can be tested for a UMOD mutation and pre-symptomatic diagnosis may allow counseling to prevent or halt the progression to renal insufficiency...
  14. ncbi Familial juvenile hyperuricaemic nephropathy
    J G Puig
    QJM 97:457-8. 2004
  15. ncbi UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy
    J J O Turner
    Molecular Endocrinology Group, Nuffield Department of Medicine, Botnar Research Centre, University of Oxford, Nuffield Orthopaedic Centre, Oxford, OX3 7LD, United Kingdom
    J Clin Endocrinol Metab 88:1398-401. 2003
    ..The results of our studies, which have identified the gene causing FJHN, now indicate a further, novel role for UROMODULIN in urate metabolism...
  16. ncbi Familial juvenile hyperuricaemic nephropathy
    J G Puig
    QJM 96:172-3. 2003