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Disease on EC 4.1.1.37 - uroporphyrinogen decarboxylase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adrenocortical Carcinoma
Organ porphyrins and uroporphyrinogen decarboxylase activity in a case of non-functioning adrenocortical carcinoma.
Azotemia
Porphyrins in chronic renal failure.
Blister
Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions.
Carcinoma
Organ porphyrins and uroporphyrinogen decarboxylase activity in a case of non-functioning adrenocortical carcinoma.
Uroporphyrinogen decarboxylase from mouse mammary carcinoma and liver of normal and tumor-bearing mouse.
Carcinoma, Renal Cell
Uroporphyrinogen decarboxylase and porphyrins in the tissue of human clear-cell renal carcinoma and in its maternal renal cortex.
Coproporphyria, Hereditary
Alterations in the activity of enzymes of haem biosynthesis in lead poisoning and acute hepatic prophyria.
The porphyrias.
Deficiency Diseases
Porphyria cutanea tarda, or the uroporphyrinogen decarboxylase deficiency diseases.
Dermatitis
Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring.
Genetic Diseases, Inborn
Identification of a new mutation responsible for hepatoerythropoietic porphyria.
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.
Glioma
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
Head and Neck Neoplasms
Uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine: a virtual screening and molecular dynamics study.
Uroporphyrinogen decarboxylase is a radiosensitizing target for head and neck cancer.
Uroporphyrinogen decarboxylase: optimizing radiotherapy for head and neck cancer.
Hemochromatosis
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda.
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.
Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda.
Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
Iron overload in porphyria cutanea tarda.
Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
Uroporphyria in the Cyp1a2-/- mouse.
Hepatitis
Iron overload in porphyria cutanea tarda.
[Hemochromatosis: the most common of rare diseases]
Hepatitis A
[Porphyria cutanea tarda and hepatitis B and C virus infection]
Hepatitis C
Blistering Disease During the Treatment of Chronic Hepatitis C With Ledipasvir/Sofosbuvir.
C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.
Hepatic porphyrin concentration and uroporphyrinogen decarboxylase activity in hepatitis C virus infection.
Hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda patients: the influence of virus C infection.
Human immunodeficiency virus and risk of porphyria cutanea tarda: a possible association examined in a large hospital.
Porphyria and kidney diseases.
Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.
Porphyria cutanea tarda: Recent update.
[Acquired characteristics of porphyria cutanea tarda in patients infected with hepatitis C virus]
Hepatitis, Chronic
Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda.
HIV Infections
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.
Porphyria cutanea tarda: Recent update.
Hypertrichosis
Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions.
Two cases of infantile porphyria cutanea tarda: successful treatment with oral S-adenosyl-L-methionine and low-dose oral chloroquine.
Infections
Associations among behavior-related susceptibility factors in porphyria cutanea tarda.
Bullous skin lesions in a patient undergoing chronic hemodialysis.
Hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda patients: the influence of virus C infection.
Porphyria cutanea tarda: Recent update.
Iron Overload
A mouse model of familial porphyria cutanea tarda.
Chemically-induced formation of an inhibitor of hepatic uroporphyrinogen decarboxylase in inbred mice with iron overload.
Dual mechanism of inhibition of rat liver uroporphyrinogen decarboxylase activity by ferrous iron: its potential role in the genesis of porphyria cutanea tarda.
Genetic variation of iron-induced uroporphyria in mice.
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.
HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.
High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda.
Investigations on the role of free radical processes in hexachlorobenzene-induced porphyria in mice.
Iron overload in porphyria cutanea tarda.
Porphyria and kidney diseases.
Porphyria cutanea tarda: Recent update.
Uroporphyria and hepatic carcinogenesis induced by polychlorinated biphenyls-iron interaction: absence in the Cyp1a2(-/-) knockout mouse.
Uroporphyria induced by 5-aminolaevulinic acid alone in Ahrd SWR mice.
[Hemochromatosis: the most common of rare diseases]
Kidney Failure, Chronic
Decreased uroporphyrinogen decarboxylase activity in patients with end-stage renal disease undergoing hemodialysis.
Porphyria and kidney diseases.
Liver Diseases
Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda.
Hepatic heme synthesis in a new model of experimental hemochromatosis: studies in rats fed finely divided elemental iron.
High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda.
Iron overload in porphyria cutanea tarda.
[Acquired characteristics of porphyria cutanea tarda in patients infected with hepatitis C virus]
Liver Diseases, Alcoholic
An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.
Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda.
Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda.
Liver Neoplasms
Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda--suggestions for a handling programme.
Neoplasm Metastasis
Organ porphyrins and uroporphyrinogen decarboxylase activity in a case of non-functioning adrenocortical carcinoma.
Neoplasms
A possible strategy against head and neck cancer: in silico investigation of three-in-one inhibitors.
Heme biosynthesis in human breast cancer--mimetic "in vitro" studies and some heme enzymic activity levels.
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
Uroporphyria and hepatic carcinogenesis induced by polychlorinated biphenyls-iron interaction: absence in the Cyp1a2(-/-) knockout mouse.
Uroporphyrinogen decarboxylase and porphyrins in the tissue of human clear-cell renal carcinoma and in its maternal renal cortex.
Uroporphyrinogen decarboxylase from mouse mammary carcinoma and liver of normal and tumor-bearing mouse.
Porphyria Cutanea Tarda
A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage.
A first report of porphyria cutanea tarda successfully treated with glycyrrhizin.
A mouse model of familial porphyria cutanea tarda.
A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda.
A potential biochemical explanation for the genesis of porphyria cutanea tarda. Studies on the inherent biochemical defect in highly purified human erythrocyte uroporphyrinogen decarboxylase and its amplification by iron.
A simplified method for determination of uroporphyrinogen decarboxylase activity in human blood.
Activation of uroporphyrinogen decarboxylase by ferrous iron in porphyria cutanea tarda.
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.
An assay of uroporphyrinogen decarboxylase in erythrocytes.
An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.
Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda.
Association between hepatitis C virus and porphyria cutanea tarda.
Associations among behavior-related susceptibility factors in porphyria cutanea tarda.
Autoantibodies in sporadic porphyria cutanea tarda.
Bilateral, geographic, peripapillary, chorioretinal atrophy in a patient with porphyria cutanea tarda and high iron stores.
Blistering Disease During the Treatment of Chronic Hepatitis C With Ledipasvir/Sofosbuvir.
C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.
Complex gene-chemical interactions: hepatic uroporphyria as a paradigm.
Complex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: implications for diagnosis of familial porphyria cutanea tarda.
Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda.
Crystal structure of human uroporphyrinogen decarboxylase.
CYP1A2*1F and GSTM1 Alleles Are Associated with Susceptibility to Porphyria Cutanea Tarda.
Cytochrome P450 induction, uroporphyrinogen decarboxylase depression, porphyrin accumulation and excretion, and gender influence in a 3-week rat model of porphyria cutanea tarda.
Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda.
Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda.
Defective human erythrocyte uroporphyrinogen decarboxylase in familial porphyria cutanea tarda: the metabolic lesion or the result of endogenous porphyrinemia?
Dual mechanism of inhibition of rat liver uroporphyrinogen decarboxylase activity by ferrous iron: its potential role in the genesis of porphyria cutanea tarda.
Effects of polychlorinated biphenyl compounds, 2,3,7,8-tetrachlorodibenzo-p-dioxin, phenobarbital and iron on hepatic uroporphyrinogen decarboxylase. Implications for the pathogenesis of porphyria.
Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.
Erythrocyte porphobilinogen deaminase activity in porphyria cutanea tarda.
Erythrocyte porphyrinogen carboxy-lyase activity in porphyria cutanea tarda and certain other human porphyrias.
Erythrocyte uroporphyrinogen decarboxylase activity in 80 unrelated patients with porphyria cutanea tarda.
Erythrocyte uroporphyrinogen decarboxylase activity in porphyria cutanea tarda: a study of 40 consecutive patients.
Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda.
Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations.
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.
Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
Familial porphyria cutanea tarda with normal erythrocytic urodecarboxylase: an exception to the rule?
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
Familial porphyria cutanea tarda: hybridization analysis of the uroporphyrinogen decarboxylase locus.
Familial porphyria cutanea tarda: the pattern of porphyrins formed from porphobilinogen by hemolysates.
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Genetic aspects of porphyria cutanea tarda.
Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects.
HAART: a risk factor for development of porphyria cutanea tarda?
Haem biosynthesis and human porphyria cutanea tarda: effects of alcohol intake.
Heme biosynthesis and the porphyrias.
Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.
Hemorheological status and redox homeostasis of phlebotomised porphyria cutanea tarda patients with diabetes mellitus and in moderate alcohol consumer.
Hepatic heme synthesis in a new model of experimental hemochromatosis: studies in rats fed finely divided elemental iron.
Hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda patients: the influence of virus C infection.
Hepatitis C and porphyria cutanea tarda.
Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association.
Hepatitis C virus core protein triggers abnormal porphyrin metabolism in human hepatocellular carcinoma cells.
Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene.
Hepatoerythropoietic porphyria precipitated by viral hepatitis.
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda?
Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication.
Heterogeneity of familial porphyria cutanea tarda.
Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda.
HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.
High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda.
High-dose vitamin E lowers urine porphyrin levels in patients affected by porphyria cutanea tarda.
How does hexachlorobenzene treatment affect liver uroporphyrinogen decarboxylase?
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria.
Identification of a new mutation responsible for hepatoerythropoietic porphyria.
Identification of two types of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase.
Immunoreactive uroporphyrinogen decarboxylase in porphyria cutanea tarda.
Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda.
Incidence of hereditary porphyria cutanea tarda (PCT) in a sample of the Italian population.
Iron overload in porphyria cutanea tarda.
Levels of uroporphyrinogen decarboxylase (URO-D) in erythrocytes of Italian porphyria cutanea tarda patients.
Liver cirrhosis induced by porphyria cutanea tarda: a case report and review.
Low-Dose Hydroxychloroquine is as Effective as Phlebotomy in Treatment of Patients with Porphyria Cutanea Tarda.
Major and trace elements in whole blood of phlebotomized patients with porphyria cutanea tarda.
Modified uroporphyrinogen decarboxylase activity in a yeast mutant which mimics porphyria cutanea tarda.
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations.
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
Mouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mapping.
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
Paraneoplastic porphyria cutanea tarda associated with cholangiocarcinoma: Case report.
Pharmacogenetics and adverse drug reactions in the skin.
Porphyria and kidney diseases.
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Porphyria cutanea tarda and HLA-linked hemochromatosis. Evidence against a systematic association.
Porphyria cutanea tarda and peptic ulcer.
Porphyria cutanea tarda as the most common porphyria.
Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring.
Porphyria cutanea tarda in a patient on chronic ambulatory peritoneal dialysis.
Porphyria cutanea tarda in human immunodeficiency virus-seropositive men: case report and literature review.
Porphyria cutanea tarda in three generations of a single family.
Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study.
Porphyria cutanea tarda induced by tamoxifen.
Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
Porphyria cutanea tarda, or the uroporphyrinogen decarboxylase deficiency diseases.
Porphyria cutanea tarda--when skin meets liver.
Porphyria cutanea tarda.
Porphyria cutanea tarda: a case report.
Porphyria cutanea tarda: clinical and laboratory features.
Porphyria cutanea tarda: erythrocyte uroporphyrinogen decarboxylase activity in 471 consecutive patients.
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.
Porphyria cutanea tarda: Recent update.
Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.
Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.
Purification and properties of human erythrocyte uroporphyrinogen decarboxylase: immunological demonstration of the enzyme defect in porphyria cutanea tarda.
Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria.
Reduced substrate affinity for human erythrocyte uroporphyrinogen decarboxylase constitutes the inherent biochemical defect in porphyria cutanea tarda.
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda.
Sporadic porphyria cutanea tarda due to haemochromatosis.
Sporadic Porphyria in a patient with stage II melanoma treated with interferon ?.
Steady-state levels of uroporphyrinogen decarboxylase mRNA in lymphoblastoid cell lines from patients with familial porphyria cutanea tarda and their relatives.
Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.
The association of hepatitis C viral infection with porphyria cutanea tarda in the Lothian region of Scotland.
The enzymatic defects in porphyria cutanea tarda and variegate porphyria.
The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.
The role of iron in experimental porphyria and porphyria cutanea tarda.
The role of iron in the pathogenesis of porphyria cutanea tarda. II. Inhibition of uroporphyrinogen decarboxylase.
Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online.
Two cases of infantile porphyria cutanea tarda: successful treatment with oral S-adenosyl-L-methionine and low-dose oral chloroquine.
Uroporphyria produced in mice by iron and 5-aminolevulinic acid.
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
Volatile anaesthetics induce biochemical alterations in the heme pathway in a B-lymphocyte cell line established from hepatoerythropoietic porphyria patients (LBHEP) and in mice inoculated with LBHEP cells.
[Acquired characteristics of porphyria cutanea tarda in patients infected with hepatitis C virus]
[Association of idiopathic hemochromatosis and tardive cutaneous porphyria]
[Association of porphyria cutanea tarda and hepatitis C virus]
[Decreased erythrocyte uroporphyrinogen decarboxylase activity in porphyria cutanea tarda]
[Enzyme deficiency of erythrocytes in human porphyria]
[Hepatic porphyrias and alcohol]
[Hepatitis C, hemochromatosis and porphyria cutanea tarda.]
[Hepatocellular carcinoma associated to porphyria cutanea tarda and hepatitis C virus infection without cirrhosis]
[Hereditary porphyria cutanea in children. Enzymatic studies (author's transl)]
[Hereditary uroporphyrinogen decarboxylase deficiency in porphyria cutanea tarda caused by hormonal contraceptives]
[Pathogenesis of porphyria cutanea tarda]
[Porphyria cutanea tarda accompanying hepatitis C]
[Porphyria cutanea tarda and hepatitis B and C virus infection]
[Porphyria cutanea tarda and hepatoerythropoietic porphyria]
[Porphyria cutanea tarda in a 4-year-old child with uroporphyrinogen decarboxylase deficiency]
[Porphyria cutanea tarda in a hemodialysed patient with hepatitis C virus infection: efficacy treatment by small repeated phlebotomies]
[Porphyria cutanea tarda, pseudoporphyria and hemodialysis of chronic renal failure patients]
[Significance and prevalence of the C282Y gene mutation of primary hemochromatosis in the pathogenesis of pophyria cutanea tarda]
[Significance of metal ion metabolism and oxidative stress in male patients with porphyria cutanea tarda.]
[Uroporphyrinogen decarboxylase in erythrocytes: studies on the primary genetic enzyme defect in chronic hepatic porphyria (author's transl)]
Porphyria, Acute Intermittent
Porphyria and kidney diseases.
The porphyrias.
Porphyria, Erythropoietic
Coexistence of deficiencies of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and in his family.
Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis.
Porphyrins in urine, plasma, erythrocytes, bile and faeces in a case of congenital erythropoietic porphyria (Gunther's disease) treated with blood transfusion and iron chelation: lack of benefit from oral charcoal.
Porphyria, Hepatoerythropoietic
A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
A zebrafish model for hepatoerythropoietic porphyria.
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based selection of transduced cells.
Effective targeted gene 'knockdown' in zebrafish.
Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.
Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda.
Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects.
Hematologic and hepatic manifestations of the cutaneous porphyrias.
Hepatic porphyrias in children.
Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene.
Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.
Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.
Hepatoerythropoietic porphyria precipitated by viral hepatitis.
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda?
Hepatoerythropoietic porphyria: a variant of childhood-onset porphyria cutanea tarda. Porphyrin profiles and enzymatic studies of two cases in a family.
Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage.
Identification of a new mutation responsible for hepatoerythropoietic porphyria.
Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.
Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family.
Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria.
Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
Neurologic disease in a child with hepatoerythropoietic porphyria.
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).
Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity.
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
Volatile anaesthetics induce biochemical alterations in the heme pathway in a B-lymphocyte cell line established from hepatoerythropoietic porphyria patients (LBHEP) and in mice inoculated with LBHEP cells.
[Hepato-erythropoietic porphyria]
Porphyria, Variegate
Erythrocyte porphyrinogen carboxy-lyase activity in porphyria cutanea tarda and certain other human porphyrias.
The porphyrias.
Porphyrias
2,3,7,8-Tetrachlorodibenzo-p-dioxin-induced porphyria in genetically inbred mice: partial antagonism and mechanistic studies.
A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage.
A first report of porphyria cutanea tarda successfully treated with glycyrrhizin.
A mouse model of familial porphyria cutanea tarda.
A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda.
A potential biochemical explanation for the genesis of porphyria cutanea tarda. Studies on the inherent biochemical defect in highly purified human erythrocyte uroporphyrinogen decarboxylase and its amplification by iron.
A simplified method for determination of uroporphyrinogen decarboxylase activity in human blood.
Abnormal kinetic behavior of uroporphyrinogen decarboxylase obtained from rats with hexachlorobenzene-induced porphyria.
Accumulation of uroporphyrin does not provoke further inhibition of liver uroporphyrinogen decarboxylase activity in hexachlorobenzene-induced porphyria.
Activation of uroporphyrinogen decarboxylase by ferrous iron in porphyria cutanea tarda.
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.
An assay of uroporphyrinogen decarboxylase in erythrocytes.
An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.
Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda.
Association between hepatitis C virus and porphyria cutanea tarda.
Associations among behavior-related susceptibility factors in porphyria cutanea tarda.
Autoantibodies in sporadic porphyria cutanea tarda.
Bilateral, geographic, peripapillary, chorioretinal atrophy in a patient with porphyria cutanea tarda and high iron stores.
Blistering Disease During the Treatment of Chronic Hepatitis C With Ledipasvir/Sofosbuvir.
C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene.
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.
Complex gene-chemical interactions: hepatic uroporphyria as a paradigm.
Complex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: implications for diagnosis of familial porphyria cutanea tarda.
Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda.
Crystal structure of human uroporphyrinogen decarboxylase.
CYP1A2*1F and GSTM1 Alleles Are Associated with Susceptibility to Porphyria Cutanea Tarda.
Cytochrome P450 induction, uroporphyrinogen decarboxylase depression, porphyrin accumulation and excretion, and gender influence in a 3-week rat model of porphyria cutanea tarda.
Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda.
Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda.
Defective human erythrocyte uroporphyrinogen decarboxylase in familial porphyria cutanea tarda: the metabolic lesion or the result of endogenous porphyrinemia?
Direct Assay of Enzymes in Heme Biosynthesis for the Detection of Porphyrias by Tandem Mass Spectrometry. Uroporphyrinogen Decarboxylase and Coproporphyrinogen III Oxidase.
Distinction between octachlorostyrene and hexachlorobenzene in their potentials to induce ethoxyphenoxazone deethylase and cause porphyria in rats and mice.
Dual mechanism of inhibition of rat liver uroporphyrinogen decarboxylase activity by ferrous iron: its potential role in the genesis of porphyria cutanea tarda.
Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies.
Dual porphyria with mutations in both the UROD and HMBS genes.
Effects of hexachlorobenzene feeding and iron overload on enzymes of haem biosynthesis and cytochrome P 450 in rat liver.
Effects of polychlorinated biphenyl compounds, 2,3,7,8-tetrachlorodibenzo-p-dioxin, phenobarbital and iron on hepatic uroporphyrinogen decarboxylase. Implications for the pathogenesis of porphyria.
Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.
Erythrocyte porphobilinogen deaminase activity in porphyria cutanea tarda.
Erythrocyte porphyrinogen carboxy-lyase activity in porphyria cutanea tarda and certain other human porphyrias.
Erythrocyte uroporphyrinogen decarboxylase activity in 80 unrelated patients with porphyria cutanea tarda.
Erythrocyte uroporphyrinogen decarboxylase activity in porphyria cutanea tarda: a study of 40 consecutive patients.
Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda.
Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations.
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.
Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
Familial porphyria cutanea tarda with normal erythrocytic urodecarboxylase: an exception to the rule?
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
Familial porphyria cutanea tarda: hybridization analysis of the uroporphyrinogen decarboxylase locus.
Familial porphyria cutanea tarda: the pattern of porphyrins formed from porphobilinogen by hemolysates.
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Genetic aspects of porphyria cutanea tarda.
Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects.
HAART: a risk factor for development of porphyria cutanea tarda?
Haem biosynthesis and human porphyria cutanea tarda: effects of alcohol intake.
Heme biosynthesis and the porphyrias.
Heme regulates exocrine peptidase precursor genes in zebrafish.
Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.
Hemorheological status and redox homeostasis of phlebotomised porphyria cutanea tarda patients with diabetes mellitus and in moderate alcohol consumer.
Hepatic heme synthesis in a new model of experimental hemochromatosis: studies in rats fed finely divided elemental iron.
Hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda patients: the influence of virus C infection.
Hepatitis C and porphyria cutanea tarda.
Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association.
Hepatitis C virus core protein triggers abnormal porphyrin metabolism in human hepatocellular carcinoma cells.
Hepatocarcinogenicity of hexachlorobenzene in rats and the sex difference in hepatic iron status and development of porphyria.
Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene.
Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
Hepatoerythropoietic porphyria precipitated by viral hepatitis.
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda?
Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication.
Heterogeneity of familial porphyria cutanea tarda.
Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda.
HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.
High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda.
High-dose vitamin E lowers urine porphyrin levels in patients affected by porphyria cutanea tarda.
How does hexachlorobenzene treatment affect liver uroporphyrinogen decarboxylase?
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria.
Identification of a new mutation responsible for hepatoerythropoietic porphyria.
Identification of two types of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase.
Immunoreactive uroporphyrinogen decarboxylase in porphyria cutanea tarda.
Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda.
Immunoreactive uroporphyrinogen decarboxylase is unchanged in porphyria caused by TCDD and hexachlorobenzene.
Incidence of hereditary porphyria cutanea tarda (PCT) in a sample of the Italian population.
Iron and uroporphyrin in hepatocytes of inbred mice in experimental porphyria: a biochemical and morphological study.
Iron overload in porphyria cutanea tarda.
Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family.
Levels of uroporphyrinogen decarboxylase (URO-D) in erythrocytes of Italian porphyria cutanea tarda patients.
Liver cirrhosis induced by porphyria cutanea tarda: a case report and review.
Low-Dose Hydroxychloroquine is as Effective as Phlebotomy in Treatment of Patients with Porphyria Cutanea Tarda.
Major and trace elements in whole blood of phlebotomized patients with porphyria cutanea tarda.
Modified uroporphyrinogen decarboxylase activity in a yeast mutant which mimics porphyria cutanea tarda.
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations.
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
Mouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mapping.
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
Oxidation of uroporphyrinogens by hydroxyl radicals. Evidence for nonporphyrin products as potential inhibitors of uroporphyrinogen decarboxylase.
Paraneoplastic porphyria cutanea tarda associated with cholangiocarcinoma: Case report.
Pharmacogenetics and adverse drug reactions in the skin.
Polycyclic aromatic hydrocarbons cause hepatic porphyria in iron-loaded C57BL/10 mice: comparison of uroporphyrinogen decarboxylase inhibition with induction of alkoxyphenoxazone dealkylations.
Porphyria and kidney diseases.
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Porphyria cutanea tarda and HLA-linked hemochromatosis. Evidence against a systematic association.
Porphyria cutanea tarda and peptic ulcer.
Porphyria cutanea tarda as the most common porphyria.
Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring.
Porphyria cutanea tarda in a HIV- positive patient.
Porphyria cutanea tarda in a patient on chronic ambulatory peritoneal dialysis.
Porphyria cutanea tarda in human immunodeficiency virus-seropositive men: case report and literature review.
Porphyria cutanea tarda in three generations of a single family.
Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study.
Porphyria cutanea tarda induced by tamoxifen.
Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions.
Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
Porphyria cutanea tarda, or the uroporphyrinogen decarboxylase deficiency diseases.
Porphyria cutanea tarda--when skin meets liver.
Porphyria cutanea tarda.
Porphyria cutanea tarda: a case report.
Porphyria cutanea tarda: clinical and laboratory features.
Porphyria cutanea tarda: erythrocyte uroporphyrinogen decarboxylase activity in 471 consecutive patients.
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.
Porphyria cutanea tarda: Recent update.
Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.
Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.
Purification and properties of human erythrocyte uroporphyrinogen decarboxylase: immunological demonstration of the enzyme defect in porphyria cutanea tarda.
Rat-liver porphyrinogen carboxy-lyase inhibition as a function of the degree of hexachlorobenzene-induced porphyria.
Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria.
Reduced substrate affinity for human erythrocyte uroporphyrinogen decarboxylase constitutes the inherent biochemical defect in porphyria cutanea tarda.
Relative abilities on a molar basis of hexafluoro-, hexachloro- and hexabromobenzenes to decrease liver uroporphyrinogen decarboxylase activity and cause porphyria in female rats.
Role of inhibition of uroporphyrinogen decarboxylase in PCB-induced porphyria in mice.
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda.
Some kinetic properties of human red cell uroporphyrinogen decarboxylase.
Sporadic porphyria cutanea tarda due to haemochromatosis.
Sporadic Porphyria in a patient with stage II melanoma treated with interferon ?.
Steady-state levels of uroporphyrinogen decarboxylase mRNA in lymphoblastoid cell lines from patients with familial porphyria cutanea tarda and their relatives.
Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.
Studies on the mechanism of uroporphyrinogen decarboxylase inhibition in hexachlorobenzene-induced porphyria in the female rat.
Synergy of iron in the toxicity and carcinogenicity of polychlorinated biphenyls (PCBs) and related chemicals.
The association of hepatitis C viral infection with porphyria cutanea tarda in the Lothian region of Scotland.
The decrease in uroporphyrinogen decarboxylase activity induced by ethanol predisposes rats to the development of porphyria and accelerates xenobiotic-triggered porphyria, regardless of hepatic damage.
The effect of the porphyrogenic compound, hexachlorobenzene, on the activity of hepatic uroporphyrinogen decarboxylase in the rat.
The enzymatic defects in porphyria cutanea tarda and variegate porphyria.
The involvement of iron and lipid peroxidation in the pathogenesis of HCB induced porphyria.
The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.
The porphyrias.
The role of contaminants in hexachlorobenzene toxicity.
The role of iron in experimental porphyria and porphyria cutanea tarda.
The role of iron in the hexachlorobenzene induced porphyria. I. Studies on different types of iron and its relation with porphyrinogen carboxy-lyase decrease.
The role of iron in the pathogenesis of porphyria cutanea tarda. II. Inhibition of uroporphyrinogen decarboxylase.
Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online.
Two cases of infantile porphyria cutanea tarda: successful treatment with oral S-adenosyl-L-methionine and low-dose oral chloroquine.
Uroporphyria produced in mice by iron and 5-aminolevulinic acid.
Uroporphyrinogen decarboxylase and protoporphyrinogen oxidase in dual porphyria.
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
Volatile anaesthetics induce biochemical alterations in the heme pathway in a B-lymphocyte cell line established from hepatoerythropoietic porphyria patients (LBHEP) and in mice inoculated with LBHEP cells.
[Acquired characteristics of porphyria cutanea tarda in patients infected with hepatitis C virus]
[Association of idiopathic hemochromatosis and tardive cutaneous porphyria]
[Association of porphyria cutanea tarda and hepatitis C virus]
[Changes in the heme metabolic pathway in diabetic patients]
[Decreased erythrocyte uroporphyrinogen decarboxylase activity in porphyria cutanea tarda]
[Effect of the thioctamide in relation to the hexachlorobenzene action]
[Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria]
[Enzyme deficiency of erythrocytes in human porphyria]
[Experimental porphyria induced by chlorinated hydrocarbons. Studies of porphyrinogen carboxy-lyase in the experimental model of human cutaneous delayed porphyria]
[Familial and sporadic porphyria cutanea symptomatica (author's transl)]
[Hepatic porphyrias and alcohol]
[Hepatitis C, hemochromatosis and porphyria cutanea tarda.]
[Hepatocellular carcinoma associated to porphyria cutanea tarda and hepatitis C virus infection without cirrhosis]
[Hereditary porphyria cutanea in children. Enzymatic studies (author's transl)]
[Hereditary uroporphyrinogen decarboxylase deficiency in porphyria cutanea tarda caused by hormonal contraceptives]
[Pathogenesis of porphyria cutanea tarda]
[Porphyria cutanea tarda accompanying hepatitis C]
[Porphyria cutanea tarda and hepatitis B and C virus infection]
[Porphyria cutanea tarda and hepatoerythropoietic porphyria]
[Porphyria cutanea tarda in a 4-year-old child with uroporphyrinogen decarboxylase deficiency]
[Porphyria cutanea tarda in a child undergoing bone marrow grafting].
[Porphyria cutanea tarda in a hemodialysed patient with hepatitis C virus infection: efficacy treatment by small repeated phlebotomies]
[Porphyria cutanea tarda, pseudoporphyria and hemodialysis of chronic renal failure patients]
[Significance and prevalence of the C282Y gene mutation of primary hemochromatosis in the pathogenesis of pophyria cutanea tarda]
[Significance of metal ion metabolism and oxidative stress in male patients with porphyria cutanea tarda.]
[Uroporphyrinogen decarboxylase in erythrocytes: studies on the primary genetic enzyme defect in chronic hepatic porphyria (author's transl)]
Porphyrias, Hepatic
Abnormal haem biosynthesis in chronic alcoholics.
Development of chronic hepatic porphyria (porphyria cutanea tarda) with inherited uroporphyrinogen decarboxylase deficiency under exposure to dioxin.
Haem biosynthesis in cutaneous hepatic porphyria: comparison with alcoholism and liver disease.
Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication.
Polycyclic aromatic hydrocarbons cause hepatic porphyria in iron-loaded C57BL/10 mice: comparison of uroporphyrinogen decarboxylase inhibition with induction of alkoxyphenoxazone dealkylations.
Porphyrin studies in TCDD-exposed workers.
Porphyrinurias and occupational disease.
The porphyrias.
Uroporphyrinogen decarboxylase deficiency in experimental chronic hepatic porphyria.
Vinyl chloride-induced hepatic coproporphyrinuria with transition to chronic hepatic porphyria.
[Chronic hepatic porphyria with uroporphyrinogen decarboxylase defect in four generations (author's transl)]
[Hepatic porphyrias and alcohol]
[Hereditary and non-hereditary form of chronic hepatic porphyria: different behaviour of uroporphyrinogen decarboxylase in liver and erythrocytes (author's transl)]
[Uroporphyrinogen decarboxylase in erythrocytes: studies on the primary genetic enzyme defect in chronic hepatic porphyria (author's transl)]
Protoporphyria, Erythropoietic
Erythrocyte porphyrinogen carboxy-lyase activity in porphyria cutanea tarda and certain other human porphyrias.
The porphyrias.
Renal Insufficiency
[Porphyria cutanea tarda, pseudoporphyria and hemodialysis of chronic renal failure patients]
Renal Insufficiency, Chronic
[Porphyria cutanea tarda, pseudoporphyria and hemodialysis of chronic renal failure patients]
Siderosis
A mouse model of familial porphyria cutanea tarda.
An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.
Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).
Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda.
Skin Diseases
Complex gene-chemical interactions: hepatic uroporphyria as a paradigm.
Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).
Porphyria cutanea tarda in three generations of a single family.
Porphyria cutanea tarda.
uroporphyrinogen decarboxylase deficiency
Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based selection of transduced cells.
Development of chronic hepatic porphyria (porphyria cutanea tarda) with inherited uroporphyrinogen decarboxylase deficiency under exposure to dioxin.
Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies.
Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.
Hepatoerythropoietic porphyria precipitated by viral hepatitis.
Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage.
Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication.
Human immunodeficiency virus and risk of porphyria cutanea tarda: a possible association examined in a large hospital.
Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family.
Isolation and characterization of extragenic mutations affecting the expression of the uroporphyrinogen decarboxylase gene (HEM12) in Sacharomyces cerevisiae.
Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria.
Porphyria cutanea tarda, or the uroporphyrinogen decarboxylase deficiency diseases.
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.
Porphyrinurias and occupational disease.
The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population.
Uroporphyrinogen decarboxylase deficiency in experimental chronic hepatic porphyria.
Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity.
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.
[Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria]
[Hepato-erythropoietic porphyria]
[Hereditary uroporphyrinogen decarboxylase deficiency in porphyria cutanea tarda caused by hormonal contraceptives]
[Porphyria cutanea tarda in a 4-year-old child with uroporphyrinogen decarboxylase deficiency]
Virus Diseases
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.
Hepatic porphyrin concentration and uroporphyrinogen decarboxylase activity in hepatitis C virus infection.
[Acquired characteristics of porphyria cutanea tarda in patients infected with hepatitis C virus]