Jordi To-Figueras

Summary

Country: Spain

Publications

  1. pmc Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services
    Mette C Tollånes
    Norwegian Porphyria Centre NAPOS, Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway AND Institute of Public Health and Primary Health Care, University of Bergen, Bergen, Norway
    Orphanet J Rare Dis 7:93. 2012
  2. ncbi request reprint Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria
    Jordi To-Figueras
    Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clinic, IDIBAPS, University of Barcelona, Villarroel 170, Barcelona 08036, Spain
    Blood Cells Mol Dis 38:242-6. 2007
  3. doi request reprint Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene
    J To-Figueras
    Biochemistry and Molecular Genetics Department, Hospital Clinic, School of Medicine, IDIBAPS, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain
    Br J Dermatol 165:499-505. 2011
  4. doi request reprint Preliminary report: hyperhomocysteinemia in patients with acute intermittent porphyria
    Jordi To-Figueras
    Biochemistry and Molecular Genetics Unit, Hospital Clinic of Barcelona, University of Barcelona, Barcelona 08036, Spain
    Metabolism 59:1809-10. 2010
  5. ncbi request reprint Long-standing changes in the urinary profile of porphyrin isomers after clinical remission of porphyria cutanea tarda
    Jordi To-Figueras
    Toxicology and Dermatology Unit, Hospital Clinic of the University of Barcelona, August Pi Sunyer Institute of Biomedical Investigations, Barcelona, Spain
    Ann Clin Lab Sci 33:251-6. 2003
  6. ncbi request reprint Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation
    J To-Figueras
    Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clinic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain
    J Inherit Metab Dis 29:580-5. 2006
  7. ncbi request reprint Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain
    Jordi To-Figueras
    Porphyria Unit, Centre Diagnòstic Biomèdic, Hospital Clinic, IDIBAPS, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain
    Mol Genet Metab 85:160-3. 2005
  8. pmc Evaluation of urinary porphyrin excretion in neonates born to mothers exposed to airborne hexachlorobenzene
    Dolores Ozalla
    Porphyria Unit, Department of Dermatology, Hospital Clinic, IDIBAPS, Faculty of Medicine, Universitat de Barcelona, Villaroel 170, 08036 Barcelona, Spain
    Environ Health Perspect 110:205-9. 2002
  9. doi request reprint Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients
    Carlos Muñoz-Santos
    Department of Dermatology, Hospital Clinic, Universitat de Barcelona, 170 Villarroel Street, 08036 Barcelona, Spain
    Medicine (Baltimore) 89:69-74. 2010
  10. ncbi request reprint Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease
    Carmen Herrero
    Department of Dermatology, Hospital Clinic of Barcelona, University of Barcelona, IDIBAPS Institut d Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
    Arch Dermatol 143:1125-9. 2007

Collaborators

Detail Information

Publications21

  1. pmc Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services
    Mette C Tollånes
    Norwegian Porphyria Centre NAPOS, Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway AND Institute of Public Health and Primary Health Care, University of Bergen, Bergen, Norway
    Orphanet J Rare Dis 7:93. 2012
    ....
  2. ncbi request reprint Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria
    Jordi To-Figueras
    Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clinic, IDIBAPS, University of Barcelona, Villarroel 170, Barcelona 08036, Spain
    Blood Cells Mol Dis 38:242-6. 2007
    ....
  3. doi request reprint Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene
    J To-Figueras
    Biochemistry and Molecular Genetics Department, Hospital Clinic, School of Medicine, IDIBAPS, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain
    Br J Dermatol 165:499-505. 2011
    ..Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria that results from a deficiency of uroporphyrinogen decarboxylase (UROD). The disease is caused by homoallelism or heteroallelism for mutations in the UROD gene...
  4. doi request reprint Preliminary report: hyperhomocysteinemia in patients with acute intermittent porphyria
    Jordi To-Figueras
    Biochemistry and Molecular Genetics Unit, Hospital Clinic of Barcelona, University of Barcelona, Barcelona 08036, Spain
    Metabolism 59:1809-10. 2010
    ..It is hypothesized that, in AIP, CBS reduced hepatic activity resulting from either a low heme status and/or consumptive depletion of PLP due to increased demand by 5-aminolevulinatesynthase hyperactivity can induce hyperhomocysteinemia...
  5. ncbi request reprint Long-standing changes in the urinary profile of porphyrin isomers after clinical remission of porphyria cutanea tarda
    Jordi To-Figueras
    Toxicology and Dermatology Unit, Hospital Clinic of the University of Barcelona, August Pi Sunyer Institute of Biomedical Investigations, Barcelona, Spain
    Ann Clin Lab Sci 33:251-6. 2003
    ..05). This study shows that PCT patients demonstrate persistent changes in urinary porphyrin profiles during clinical remission, even when total urinary porphyrin excretion has fallen to the normal range...
  6. ncbi request reprint Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation
    J To-Figueras
    Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clinic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain
    J Inherit Metab Dis 29:580-5. 2006
    ..These results reinforce the hypothesis that the R173W mutation may have a high biochemical and clinical penetrance among AIP patients...
  7. ncbi request reprint Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain
    Jordi To-Figueras
    Porphyria Unit, Centre Diagnòstic Biomèdic, Hospital Clinic, IDIBAPS, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain
    Mol Genet Metab 85:160-3. 2005
    ..The analysis of the CPO gene showed that three cases harboured novel mutations: V135A (404T>C; exon 1); L214R (641T>G; exon 2); and P249R (746C>G; exon 3) and in the fourth, a previously described R426X mutation in exon 6...
  8. pmc Evaluation of urinary porphyrin excretion in neonates born to mothers exposed to airborne hexachlorobenzene
    Dolores Ozalla
    Porphyria Unit, Department of Dermatology, Hospital Clinic, IDIBAPS, Faculty of Medicine, Universitat de Barcelona, Villaroel 170, 08036 Barcelona, Spain
    Environ Health Perspect 110:205-9. 2002
    ..However, we observed an association between maternal smoking and coproporphyrin excretion. Although high environmental levels of HCB are reported in the town of Flix, we found no alteration in urinary porphyrin excretion...
  9. doi request reprint Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients
    Carlos Muñoz-Santos
    Department of Dermatology, Hospital Clinic, Universitat de Barcelona, 170 Villarroel Street, 08036 Barcelona, Spain
    Medicine (Baltimore) 89:69-74. 2010
    ..Therefore, in countries with a high prevalence of hepatitis C virus infection, the absence of such infection in a patient with porphyria cutanea tarda may suggest a possible familial case...
  10. ncbi request reprint Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease
    Carmen Herrero
    Department of Dermatology, Hospital Clinic of Barcelona, University of Barcelona, IDIBAPS Institut d Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
    Arch Dermatol 143:1125-9. 2007
    ..To study the mutations in the ferrochelatase gene (FECH) and the phenotypic expression of erythropoietic protoporphyria (EPP) in a group of Spanish patients...
  11. ncbi request reprint Trends in illicit drug emergencies: the emerging role of gamma-hydroxybutyrate
    Oscar Miro
    Emergency Department, Hospital Clinic, Barcelona, Spain
    J Toxicol Clin Toxicol 40:129-35. 2002
    ..Not surprisingly, an increasing number of acute overdose cases requiring emergency medical care have been reported and described, especially in the United States...
  12. pmc Urinary porphyrin excretion in children is associated with exposure to organochlorine compounds
    Jordi Sunyer
    Centre for Research in Environmental Epidemiology, Barcelona, Catalonia, Spain
    Environ Health Perspect 116:1407-10. 2008
    ..Evidence in humans, however, is contradictory. In neonates and adults from a population historically highly exposed to HCB (Flix, Catalonia, Spain), no relation with PCT or with porphyrin excretion was found...
  13. doi request reprint ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria
    Jordi To-Figueras
    Biochemistry and Molecular Genetics Unit, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain
    Blood 118:1443-51. 2011
    ..We propose that ALAS2 gene mutations should be considered not only as causative of X-linked sideroblastic anemia (XLSA) and XLDPP but may also modulate gene function in other erythropoietic disorders...
  14. doi request reprint Brainstem dysfunction in variegate porphyria
    Gonzalo Barraza
    Neurology Department, EMG and Motor Control Unit, Hospital Clinic, Villarroel 170, Barcelona 08036, Spain
    Muscle Nerve 46:426-33. 2012
    ..Variegate porphyria (VP) is a rare metabolic disorder that may present as an acute predominantly motor neuropathy. Cranial nerves and brainstem functions have been only scarcely studied...
  15. ncbi request reprint Atypical red cell inclusions in congenital erythropoietic porphyria
    Anna Merino
    Department of Haemotherapy, Hospital Clinic, Centro de Diagnóstico Biomédico CDB, Barcelona, Spain
    Br J Haematol 132:124. 2006
  16. doi request reprint Gas chromatography-mass spectrometry profiling of steroids in urine of patients with acute intermittent porphyria
    Gregori Casals
    Biochemistry and Molecular Genetics Unit, Hospital Clinic of Barcelona, IDIBAPS, University of Barcelona, Spain
    Clin Biochem 46:819-24. 2013
    ..In some patients, remission of the acute symptoms leads to long-term hepatic metabolic abnormalities. In this study, gas chromatography-mass spectrometry (GC/MS) was used to investigate urinary steroid metabolome of AIP patients...
  17. ncbi request reprint [Poisoning by liquid ecstasy (GHB) in hospital emergency departments of Barcelona: a 2-years study]
    Miguel Galicia
    Servicio de Urgencias, Hospital Clinic, Barcelona, Espana
    Med Clin (Barc) 130:254-8. 2008
    ..To describe the epidemiological profile and clinical manifestations, we analyzed cases of poisoning by GHB attended by the Emergency Departments (ED) of 2 hospitals of the city of Barcelona...
  18. ncbi request reprint Microsomal epoxide hydrolase and glutathione S-transferase polymorphisms in relation to laryngeal carcinoma risk
    Jordi To-Figueras
    Toxicology Unit, ORL Unit, Hospital Clinic, IDIBAPS, Ciutat Sanitaria de Bellvitge, Departament de Salut Publica, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain
    Cancer Lett 187:95-101. 2002
    ..173 (2001) 155) suggesting the existence of an interaction between variants of EH and GSTpi, both enzymes being involved in the metabolism of aromatic hydrocarbons, that may increase susceptibility to tobacco-related cancers...
  19. ncbi request reprint Meta- and pooled analyses of the effects of glutathione S-transferase M1 polymorphisms and smoking on lung cancer risk
    Simone Benhamou
    INSERM U521, EMI 00 06, Evry, France
    Carcinogenesis 23:1343-50. 2002
    ..08, 95% CI 0.98-1.18) and no evidence of interaction between GSTM1 genotype and either smoking status or cumulative tobacco consumption...
  20. ncbi request reprint Microsomal epoxide hydrolase polymorphisms and lung cancer risk: a quantitative review
    Won Jin Lee
    International Agency for Research on Cancer, 150 cours Albert Thomas, 69008 Lyon, France
    Biomarkers 7:230-41. 2002
    ..If present, this effect may vary among different populations, possibly because of interaction with genetic or environmental factors...
  21. ncbi request reprint Association of metabolic gene polymorphisms with tobacco consumption in healthy controls
    Kim M Smits
    University Maastricht, Maastricht, The Netherlands
    Int J Cancer 110:266-70. 2004
    ..No association between polymorphisms in the genes studied and tobacco consumption was observed; therefore, no effect of these genes on smoking behavior should be expected...