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48. The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. Frank J; Poh-Fitzpatrick MB; King LE; Christiano AM Arch Dermatol Res; 1998 Aug; 290(8):441-5. PubMed ID: 9763307 [TBL] [Abstract][Full Text] [Related]
49. Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. de Verneuil H; Bourgeois F; de Rooij F; Siersema PD; Wilson JH; Grandchamp B; Nordmann Y Hum Genet; 1992 Jul; 89(5):548-52. PubMed ID: 1634232 [TBL] [Abstract][Full Text] [Related]
50. Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. Kauppinen R; Timonen K; von und zu Fraunberg M; Laitinen E; Ahola H; Tenhunen R; Taketani S; Mustajoki P J Invest Dermatol; 2001 Apr; 116(4):610-3. PubMed ID: 11286631 [TBL] [Abstract][Full Text] [Related]
51. Familial porphyria cutanea tarda: the pattern of porphyrins formed from porphobilinogen by hemolysates. Alleman MA; Wilson JH; van den Berg JW; Edixhoven-Bosdijk A; van Gastel-Quist LM Clin Chem; 1982 May; 28(5):1144-7. PubMed ID: 7074894 [TBL] [Abstract][Full Text] [Related]
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55. [Porphyria cutanea tarda in a 4-year-old child with uroporphyrinogen decarboxylase deficiency]. Cotton JB; Abeille A; Jeune R; Ladreyt-Ponchon JP; Grenier JL Pediatrie; 1986 Dec; 41(8):617-27. PubMed ID: 3575073 [TBL] [Abstract][Full Text] [Related]
56. Identification of a new mutation responsible for hepatoerythropoietic porphyria. Romana M; Grandchamp B; Dubart A; Amselem S; Chabret C; Nordmann Y; Goossens M; Romeo PH Eur J Clin Invest; 1991 Apr; 21(2):225-9. PubMed ID: 1905636 [TBL] [Abstract][Full Text] [Related]
57. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. Gouya L; Puy H; Robreau AM; Lyoumi S; Lamoril J; Da Silva V; Grandchamp B; Deybach JC Hum Genet; 2004 Feb; 114(3):256-62. PubMed ID: 14669009 [TBL] [Abstract][Full Text] [Related]
58. [What is safe in the therapy of porphyrias?]. Pierach CA Internist (Berl); 1981 Dec; 22(12):726-32. PubMed ID: 7033162 [No Abstract] [Full Text] [Related]
59. Molecular aspects of the inherited porphyrias. Sassa S; Kappas A J Intern Med; 2000 Feb; 247(2):169-78. PubMed ID: 10692079 [TBL] [Abstract][Full Text] [Related]