Genomes and Genes
- Establishing a network of specialist Porphyria centres - effects on diagnostic activities and servicesMette 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....
- Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyriaJordi 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....
- Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase geneJ 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...
- Preliminary report: hyperhomocysteinemia in patients with acute intermittent porphyriaJordi 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...
- Long-standing changes in the urinary profile of porphyrin isomers after clinical remission of porphyria cutanea tardaJordi 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...
- Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutationJ 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...
- Biochemical and genetic characterization of four cases of hereditary coproporphyria in SpainJordi 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...
- Evaluation of urinary porphyrin excretion in neonates born to mothers exposed to airborne hexachlorobenzeneDolores 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...
- Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patientsCarlos 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...
- Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous diseaseCarmen 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...
- Trends in illicit drug emergencies: the emerging role of gamma-hydroxybutyrateOscar 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...
- Urinary porphyrin excretion in children is associated with exposure to organochlorine compoundsJordi 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...
- ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyriaJordi 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...
- Brainstem dysfunction in variegate porphyriaGonzalo 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...
- Atypical red cell inclusions in congenital erythropoietic porphyriaAnna Merino
Department of Haemotherapy, Hospital Clinic, Centro de Diagnóstico Biomédico CDB, Barcelona, Spain
Br J Haematol 132:124. 2006
- Gas chromatography-mass spectrometry profiling of steroids in urine of patients with acute intermittent porphyriaGregori 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...
- [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...
- Microsomal epoxide hydrolase and glutathione S-transferase polymorphisms in relation to laryngeal carcinoma riskJordi 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...
- Meta- and pooled analyses of the effects of glutathione S-transferase M1 polymorphisms and smoking on lung cancer riskSimone 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...
- Microsomal epoxide hydrolase polymorphisms and lung cancer risk: a quantitative reviewWon 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...
- Association of metabolic gene polymorphisms with tobacco consumption in healthy controlsKim 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...