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49. Dual porphyria with mutations in both the UROD and HMBS genes. Harraway JR; Florkowski CM; Sies C; George PM Ann Clin Biochem; 2006 Jan; 43(Pt 1):80-2. PubMed ID: 16390615 [TBL] [Abstract][Full Text] [Related]
50. The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation. Matsui A; Akasaka E; Rokunohe D; Matsuzaki Y; Sawamura D; Nakano H J Dermatol Sci; 2019 Jan; 93(1):65-67. PubMed ID: 30522880 [No Abstract] [Full Text] [Related]
51. Molecular defect in human erythropoietic protoporphyria with fatal liver failure. Nakahashi Y; Miyazaki H; Kadota Y; Naitoh Y; Inoue K; Yamamoto M; Hayashi N; Taketani S Hum Genet; 1993 May; 91(4):303-6. PubMed ID: 8500787 [TBL] [Abstract][Full Text] [Related]
52. Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage. Toback AC; Sassa S; Poh-Fitzpatrick MB; Schechter J; Zaider E; Harber LC; Kappas A N Engl J Med; 1987 Mar; 316(11):645-50. PubMed ID: 3821794 [TBL] [Abstract][Full Text] [Related]
53. An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity. Kushner JP; Barbuto AJ; Lee GR J Clin Invest; 1976 Nov; 58(5):1089-97. PubMed ID: 993332 [TBL] [Abstract][Full Text] [Related]
54. Coexistence of deficiencies of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and in his family. Freesemann AG; Hofweber K; Doss MO Eur J Clin Chem Clin Biochem; 1997 Jan; 35(1):35-9. PubMed ID: 9156565 [TBL] [Abstract][Full Text] [Related]
55. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda. Savino M; Garrubba M; Zelante L; Aucella F; Guida CC; Santini SA Hum Genet; 2010 Apr; 127(4):474. PubMed ID: 21488236 [No Abstract] [Full Text] [Related]
56. Nucleotide sequence of the Synechococcus sp. PCC7942 hemE gene encoding the homologue of mammalian uroporphyrinogen decarboxylase. Kiel JA; Ten Berge AM; Venema G DNA Seq; 1992; 2(6):415-8. PubMed ID: 1339332 [TBL] [Abstract][Full Text] [Related]
57. Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach. Doss CG; Magesh R Cell Biochem Biophys; 2014 Nov; 70(2):735-46. PubMed ID: 24777812 [TBL] [Abstract][Full Text] [Related]
59. A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. Garey JR; Hansen JL; Harrison LM; Kennedy JB; Kushner JP Blood; 1989 Mar; 73(4):892-5. PubMed ID: 2920211 [TBL] [Abstract][Full Text] [Related]