4.2.1.75 Abortion, Spontaneous http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9472348&form=6&db=m Dibromochloropropane: epidemiological findings and current questions. causal interaction,therapeutic application,unassigned 1,4,0 4.2.1.75 Anemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=265562&form=6&db=m Levels of delta-aminolevulinate dehydratase, uroporphyrinogen-I synthase, and protoporphyrin IX in erythrocytes from anemic mutant mice. causal interaction,unassigned 4,0 4.2.1.75 Anemia, Hemolytic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21731282&form=6&db=m Erythrodontia in congenital erythropoietic porphyria. causal interaction,unassigned 3,0 4.2.1.75 Anemia, Hemolytic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22795135&form=6&db=m Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors. causal interaction,unassigned 3,0 4.2.1.75 Anemia, Hemolytic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24145442&form=6&db=m Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria. causal interaction,therapeutic application,unassigned 4,4,0 4.2.1.75 Anemia, Hemolytic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28334762&form=6&db=m Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. causal interaction,therapeutic application,unassigned 3,3,0 4.2.1.75 Carcinogenesis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9472348&form=6&db=m Dibromochloropropane: epidemiological findings and current questions. causal interaction,therapeutic application,unassigned 1,4,0 4.2.1.75 Carcinoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2060282&form=6&db=m Mouse mammary carcinoma porphobilinogenase and hydroxymethylbilane synthetase. ongoing research,therapeutic application,unassigned 4,2,0 4.2.1.75 Coproporphyria, Hereditary http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8621830&form=6&db=m Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant. diagnostic usage,unassigned 1,0 4.2.1.75 coproporphyrinogen oxidase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8621830&form=6&db=m Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant. diagnostic usage,unassigned 1,0 4.2.1.75 Erectile Dysfunction http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18266709&form=6&db=m Benign prostatic hyperplasia evaluation, treatment and association with sexual dysfunction: practice patterns according to physician specialty. therapeutic application,unassigned 1,0 4.2.1.75 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9861496&form=6&db=m 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. causal interaction,unassigned 4,0 4.2.1.75 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19268002&form=6&db=m Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype. causal interaction,unassigned 4,0 4.2.1.75 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26969896&form=6&db=m Advances in understanding the pathogenesis of congenital erythropoietic porphyria. unassigned - 4.2.1.75 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33953217&form=6&db=m Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models. causal interaction,unassigned 4,0 4.2.1.75 Glioma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27898674&form=6&db=m Aberrations in the Iron Regulatory Gene Signature Are Associated with Decreased Survival in Diffuse Infiltrating Gliomas. diagnostic usage,ongoing research,unassigned 2,2,0 4.2.1.75 Glioma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32722247&form=6&db=m TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas. causal interaction,diagnostic usage,ongoing research,unassigned 2,1,2,0 4.2.1.75 Hematologic Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28865079&form=6&db=m Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations. A case report. causal interaction,unassigned 4,0 4.2.1.75 Infertility http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9472348&form=6&db=m Dibromochloropropane: epidemiological findings and current questions. causal interaction,therapeutic application,unassigned 1,4,0 4.2.1.75 Intraabdominal Infections http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32457103&form=6&db=m The uroS and yifB Genes Conserved among Tetrapyrrole Synthesizing-Deficient Bacteroidales Are Involved in Bacteroides fragilis Heme Assimilation and Survival in Experimental Intra-abdominal Infection and Intestinal Colonization. unassigned - 4.2.1.75 Leukemia, Erythroblastic, Acute http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9787090&form=6&db=m Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells. causal interaction,ongoing research,unassigned 1,2,0 4.2.1.75 Myelodysplastic Syndromes http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27086902&form=6&db=m Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation. causal interaction,unassigned 4,0 4.2.1.75 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2060282&form=6&db=m Mouse mammary carcinoma porphobilinogenase and hydroxymethylbilane synthetase. ongoing research,therapeutic application,unassigned 4,2,0 4.2.1.75 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2276414&form=6&db=m Heme biosynthesis in human breast cancer--mimetic "in vitro" studies and some heme enzymic activity levels. diagnostic usage,ongoing research,unassigned 3,3,0 4.2.1.75 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32179165&form=6&db=m The gut microbiota metabolite urolithin A, but not other relevant urolithins, induces p53-dependent cellular senescence in human colon cancer cells. unassigned - 4.2.1.75 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32722247&form=6&db=m TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas. causal interaction,diagnostic usage,ongoing research,unassigned 2,1,2,0 4.2.1.75 Photosensitivity Disorders http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17148589&form=6&db=m Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Acute Intermittent http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33845&form=6&db=m A simple method for measuring erythrocyte porphobilinogenase, and its use in the diagnosis of acute intermittent porphyria. diagnostic usage,unassigned 4,0 4.2.1.75 Porphyria, Acute Intermittent http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20485863&form=6&db=m Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. causal interaction,diagnostic usage,ongoing research,unassigned 2,4,2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1519940&form=6&db=m Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity. causal interaction,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1675371&form=6&db=m Bone-marrow transplantation for congenital erythropoietic porphyria. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1733834&form=6&db=m Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1737856&form=6&db=m Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. causal interaction,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1935206&form=6&db=m Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease). causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=2331520&form=6&db=m Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease). causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3174619&form=6&db=m Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA. causal interaction,ongoing research,unassigned 4,2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3674403&form=6&db=m Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria. causal interaction,diagnostic usage,ongoing research,unassigned 1,3,2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7550841&form=6&db=m [Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure] causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7552139&form=6&db=m Identification of two new mutations in congenital erythropoietic porphyria. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7860775&form=6&db=m Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. causal interaction,diagnostic usage,ongoing research,unassigned 1,3,3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=7888667&form=6&db=m Metabolic correction of congenital erythropoietic porphyria by retrovirus-mediated gene transfer into Epstein-Barr virus-transformed B-cell lines. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8621830&form=6&db=m Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant. diagnostic usage,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8821859&form=6&db=m Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis. causal interaction,diagnostic usage,unassigned 4,2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8829650&form=6&db=m Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. causal interaction,diagnostic usage,ongoing research,unassigned 1,1,4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8832020&form=6&db=m Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease). causal interaction,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=8946173&form=6&db=m A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9092747&form=6&db=m Congenital erythropoietic porphyria. causal interaction,therapeutic application,unassigned 3,2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9156565&form=6&db=m Coexistence of deficiencies of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and in his family. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9164637&form=6&db=m Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease). unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9188670&form=6&db=m Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9211197&form=6&db=m Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria. ongoing research,therapeutic application,unassigned 2,1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9516681&form=6&db=m Molecular genetics of congenital erythropoietic porphyria. causal interaction,unassigned 2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9787090&form=6&db=m Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells. causal interaction,ongoing research,unassigned 1,2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9799113&form=6&db=m Immunological, enzymatic and biochemical studies of uroporphyrinogen III-synthase deficiency in 20 patients with congenital erythropoietic porphyria. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9803266&form=6&db=m C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9834209&form=6&db=m Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9861496&form=6&db=m 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. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=9916395&form=6&db=m Congenital erythropoietic porphyria: a case report. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10343205&form=6&db=m Congenital erythropoietic porphyria. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10644678&form=6&db=m Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene. causal interaction,ongoing research,unassigned 2,4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=10738549&form=6&db=m Fluorescence-based selection of retrovirally transduced cells in congenital erythropoietic porphyria: direct selection based on the expression of the therapeutic gene. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11244446&form=6&db=m Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11254675&form=6&db=m Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. causal interaction,unassigned 2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11273784&form=6&db=m Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11886534&form=6&db=m Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. causal interaction,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12060141&form=6&db=m Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12534613&form=6&db=m Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature. causal interaction,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=12721665&form=6&db=m Lentivirus-mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells. causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=15703981&form=6&db=m Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease). causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16314073&form=6&db=m A knock-in mouse model of congenital erythropoietic porphyria. causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16365260&form=6&db=m Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. causal interaction,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16532394&form=6&db=m Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions. causal interaction,ongoing research,unassigned 2,2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17148589&form=6&db=m Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17270473&form=6&db=m Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria. causal interaction,therapeutic application,unassigned 2,1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17298225&form=6&db=m Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18004775&form=6&db=m Human uroporphyrinogen III synthase: NMR-based mapping of the active site. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18179890&form=6&db=m Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells. causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18601879&form=6&db=m [Successful gene therapy of mice with congenital erythropoietic porphyria] causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18647208&form=6&db=m Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19099412&form=6&db=m Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability. causal interaction,ongoing research,unassigned 2,2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19268002&form=6&db=m Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19965637&form=6&db=m Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20485863&form=6&db=m Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. causal interaction,diagnostic usage,ongoing research,unassigned 2,4,2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20586119&form=6&db=m Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20932444&form=6&db=m [Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft]. therapeutic application,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21343304&form=6&db=m Intracellular Rescue of the Uroporphyrinogen III Synthase Activity in Enzymes Carrying the Hotspot Mutation C73R. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21365124&form=6&db=m Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes. causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21570665&form=6&db=m Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase:Molecular basis of congenital erythropoietic porphyria. causal interaction,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21653323&form=6&db=m ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. causal interaction,therapeutic application,unassigned 4,1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22090724&form=6&db=m Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met). causal interaction,unassigned 2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22350154&form=6&db=m Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria. causal interaction,unassigned 2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22404357&form=6&db=m A molecular study of congenital erythropoietic porphyria in cattle. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22795135&form=6&db=m Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors. causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22816431&form=6&db=m Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. causal interaction,unassigned 2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23557135&form=6&db=m Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23612387&form=6&db=m Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options. causal interaction,ongoing research,unassigned 1,2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23626549&form=6&db=m Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient. causal interaction,ongoing research,unassigned 2,1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23953398&form=6&db=m Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24082206&form=6&db=m A Case of Congenital Erythropoietic Porphyria without Hemolysis. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24145442&form=6&db=m Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria. causal interaction,therapeutic application,unassigned 4,4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24192686&form=6&db=m Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24601890&form=6&db=m Congenital erythropoietic porphyria: a case where symptoms have been precipitated by an unrelated anaemia. causal interaction,unassigned 3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24925316&form=6&db=m Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25092523&form=6&db=m Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25972160&form=6&db=m Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria. therapeutic application,unassigned 2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26969896&form=6&db=m Advances in understanding the pathogenesis of congenital erythropoietic porphyria. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27086902&form=6&db=m Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27512208&form=6&db=m Congenital Erythropoietic Porphyria with Undescended Testis. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27859603&form=6&db=m Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence. causal interaction,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28334762&form=6&db=m Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. causal interaction,therapeutic application,unassigned 3,3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28865079&form=6&db=m Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations. A case report. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29557620&form=6&db=m [Congenital erythropoietic porphyria: case report and management recommendations]. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30232228&form=6&db=m Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria. causal interaction,unassigned 2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30454868&form=6&db=m Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. causal interaction,therapeutic application,unassigned 4,1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30850590&form=6&db=m CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations. ongoing research,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31843562&form=6&db=m Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction. causal interaction,unassigned 1,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32678895&form=6&db=m Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria. unassigned - 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32795423&form=6&db=m Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells. ongoing research,therapeutic application,unassigned 2,4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33659185&form=6&db=m Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy. causal interaction,therapeutic application,unassigned 3,3,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33850991&form=6&db=m Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients. causal interaction,unassigned 2,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33953217&form=6&db=m Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models. causal interaction,unassigned 4,0 4.2.1.75 Porphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34071291&form=6&db=m Improving the Pharmacological Properties of Ciclopirox for Its Use in Congenital Erythropoietic Porphyria. causal interaction,unassigned 2,0 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33845&form=6&db=m A simple method for measuring erythrocyte porphobilinogenase, and its use in the diagnosis of acute intermittent porphyria. diagnostic usage,unassigned 4,0 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=3674403&form=6&db=m Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria. causal interaction,diagnostic usage,ongoing research,unassigned 1,3,2,0 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11689424&form=6&db=m Crystal structure of human uroporphyrinogen III synthase. causal interaction,unassigned 4,0 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20485863&form=6&db=m Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. causal interaction,diagnostic usage,ongoing research,unassigned 2,4,2,0 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22350154&form=6&db=m Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria. causal interaction,unassigned 2,0 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=22816431&form=6&db=m Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. causal interaction,unassigned 2,0 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24601890&form=6&db=m Congenital erythropoietic porphyria: a case where symptoms have been precipitated by an unrelated anaemia. causal interaction,unassigned 3,0 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=27086902&form=6&db=m Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation. causal interaction,unassigned 4,0 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29557620&form=6&db=m [Congenital erythropoietic porphyria: case report and management recommendations]. causal interaction,unassigned 4,0 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30706587&form=6&db=m Congenital Erythropoietic Porphyria with Erythrodontia: A Case Report. unassigned - 4.2.1.75 Porphyrias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32795423&form=6&db=m Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells. ongoing research,therapeutic application,unassigned 2,4,0 4.2.1.75 Prostatic Hyperplasia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=17377613&form=6&db=m Physician perceptions of sexual dysfunction related to benign prostatic hyperplasia (BPH) symptoms and sexual side effects related to BPH medications. therapeutic application,unassigned 1,0 4.2.1.75 Protoporphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=11886534&form=6&db=m Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. causal interaction,unassigned 1,0 4.2.1.75 Protoporphyria, Erythropoietic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30454868&form=6&db=m Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. causal interaction,therapeutic application,unassigned 4,1,0 4.2.1.75 protoporphyrin ferrochelatase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19805308&form=6&db=m Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant. causal interaction,unassigned 4,0 4.2.1.75 Urologic Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18266709&form=6&db=m Benign prostatic hyperplasia evaluation, treatment and association with sexual dysfunction: practice patterns according to physician specialty. therapeutic application,unassigned 1,0 4.2.1.75 uroporphyrinogen-iii synthase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=1675371&form=6&db=m Bone-marrow transplantation for congenital erythropoietic porphyria. causal interaction,unassigned 4,0 4.2.1.75 uroporphyrinogen-iii synthase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=16314073&form=6&db=m A knock-in mouse model of congenital erythropoietic porphyria. causal interaction,unassigned 3,0 4.2.1.75 uroporphyrinogen-iii synthase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19268002&form=6&db=m Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype. causal interaction,unassigned 4,0 4.2.1.75 uroporphyrinogen-iii synthase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24145442&form=6&db=m Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria. causal interaction,therapeutic application,unassigned 4,4,0 4.2.1.75 uroporphyrinogen-iii synthase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28334762&form=6&db=m Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. causal interaction,therapeutic application,unassigned 3,3,0 4.2.1.75 uroporphyrinogen-iii synthase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29557620&form=6&db=m [Congenital erythropoietic porphyria: case report and management recommendations]. causal interaction,unassigned 4,0