R Torres

Summary

Country: Spain

Publications

  1. ncbi Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation
    Rosa J Torres
    Department of Clinical Biochemistry, Metabolic Vascular Unit, IdiPAZ, La Paz University Hospital, Madrid, Spain
    Gene 511:306-7. 2012
  2. ncbi [Variant phenotype of Lesch-Nyhan syndrome]
    Rosa Torres Jiménez
    Unidad Metabolicovascular, Servicio de Bioquímica Clínica y Medicina Interna, IdiPAZ, Hospital Universitario La Paz, Madrid, Espana
    Med Clin (Barc) 136:63-6. 2011
  3. 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
  4. 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
  5. ncbi Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
    Rosa J Torres
    Division of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain
    Orphanet J Rare Dis 2:48. 2007
  6. ncbi Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency
    Rosa J Torres
    Division of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain
    Metabolism 56:1179-86. 2007
  7. ncbi [Preclinical diagnosis of the familial nephropathy associated to hyperuricemia]
    R Torres
    Servicios de Bioquímica Clínica, Hospital Universitario La Paz, Universidad Autonoma de Madrid
    Nefrologia 26:382-6. 2006
  8. ncbi Adenosine transport in peripheral blood lymphocytes from Lesch-Nyhan patients
    Rosa J Torres
    Clinical Biochemistry Division, La Paz University Hospital, Paseo de la Castellana 261, 28046 Madrid, Spain
    Biochem J 377:733-9. 2004
  9. ncbi Normal HPRT coding region in complete and partial HPRT deficiency
    Marta G García
    Division of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain
    Mol Genet Metab 94:167-72. 2008
  10. ncbi The pathophysiology of hyperuricemia in essential hypertension: a pilot study
    Juan G Puig
    Division of Internal Medicine, Hospital La Paz, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 23:1197-9. 2004

Collaborators

Detail Information

Publications14

  1. ncbi Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation
    Rosa J Torres
    Department of Clinical Biochemistry, Metabolic Vascular Unit, IdiPAZ, La Paz University Hospital, Madrid, Spain
    Gene 511:306-7. 2012
    ..These patients presented a decreased HPRT1 expression of unknown cause. This is the first report of a carrier and prenatal diagnosis of LND due to a defect in HPRT gene expression regulation...
  2. ncbi [Variant phenotype of Lesch-Nyhan syndrome]
    Rosa Torres Jiménez
    Unidad Metabolicovascular, Servicio de Bioquímica Clínica y Medicina Interna, IdiPAZ, Hospital Universitario La Paz, Madrid, Espana
    Med Clin (Barc) 136:63-6. 2011
    ..We report a patient presenting a variant phenotype and a major genetic defect. The mutation has been previously reported as always associated with complete Lesch-Nyhan phenotype...
  3. 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...
  4. 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
    ....
  5. ncbi Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
    Rosa J Torres
    Division of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain
    Orphanet J Rare Dis 2:48. 2007
    ..Self-injurious behaviour must be managed by a combination of physical restraints, behavioural and pharmaceutical treatments...
  6. ncbi Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency
    Rosa J Torres
    Division of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain
    Metabolism 56:1179-86. 2007
    ..Xanthine lithiasis, developing as a consequence of allopurinol therapy, should be preventable by adjustment of allopurinol dose...
  7. ncbi [Preclinical diagnosis of the familial nephropathy associated to hyperuricemia]
    R Torres
    Servicios de Bioquímica Clínica, Hospital Universitario La Paz, Universidad Autonoma de Madrid
    Nefrologia 26:382-6. 2006
    ..This patient shows the possibility to identify the genetic alteration associated to FJHN in early stages. This fact implies a clinical follow-up and eventual treatment to reduce the inexorable progression to renal insuffciency...
  8. ncbi Adenosine transport in peripheral blood lymphocytes from Lesch-Nyhan patients
    Rosa J Torres
    Clinical Biochemistry Division, La Paz University Hospital, Paseo de la Castellana 261, 28046 Madrid, Spain
    Biochem J 377:733-9. 2004
    ..This indicates that hypoxanthine affects adenosine transport in control and hypoxanthine-guanine phosphoribosyltransferase-deficient cells by different mechanisms...
  9. ncbi Normal HPRT coding region in complete and partial HPRT deficiency
    Marta G García
    Division of Clinical Biochemistry, La Paz University Hospital, Madrid, Spain
    Mol Genet Metab 94:167-72. 2008
    ..This is the first report of a patient with Lesch-Nyhan syndrome due to a defect in HPRT gene expression regulation...
  10. ncbi The pathophysiology of hyperuricemia in essential hypertension: a pilot study
    Juan G Puig
    Division of Internal Medicine, Hospital La Paz, Madrid, Spain
    Nucleosides Nucleotides Nucleic Acids 23:1197-9. 2004
    ..Simultaneously, urinary sodium to creatinine ratio decreased by a mean of 54%. These results suggest that insulin may mediate uric acid underexcretion due to its tubular sodium retaining effect in essential hypertensive patients...
  11. ncbi Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman
    Pablo Garcia-Pavia
    La Paz University Hospital, Madrid, Spain
    Arthritis Rheum 48:2036-41. 2003
    ..This is the first reported instance of PRS overactivity in which the propositus and sole affected family member is a woman...
  12. 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...
  13. ncbi Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13
    Joanna M Stacey
    Molecular Endocrinology Group, Nuffield Department of Medicine, Botnar Research Center, University of Oxford, Oxford, United Kingdom OX3 7LD
    J Clin Endocrinol Metab 88:464-70. 2003
    ..These results will facilitate the characterization of this gene regulating urate metabolism...
  14. ncbi Delineation of the motor disorder of Lesch-Nyhan disease
    H A Jinnah
    Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA
    Brain 129:1201-17. 2006
    ..Explanations for the differing observations available in the literature are provided, along with a summary of how the motor disorder of LND relates to current understanding of its pathophysiology involving the basal ganglia...