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2. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart. Martinez di Montemuros F; Di Pierro E; Patti E; Tavazzi D; Danielli MG; Biolcati G; Rocchi E; Cappellini MD Cell Mol Biol (Noisy-le-grand); 2002 Dec; 48(8):867-76. PubMed ID: 12699245 [TBL] [Abstract][Full Text] [Related]
3. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. Ulbrichova D; Hrdinka M; Saudek V; Martasek P FEBS J; 2009 Apr; 276(7):2106-15. PubMed ID: 19292878 [TBL] [Abstract][Full Text] [Related]
4. Molecular genetics of porphyrias. Nordmann Y; de Verneuil H; Deybach JC; Delfau MH; Grandchamp B Ann Med; 1990 Dec; 22(6):387-91. PubMed ID: 2076270 [No Abstract] [Full Text] [Related]
5. 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]
6. Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies. Doss MO Clin Genet; 1989 Feb; 35(2):146-51. PubMed ID: 2721023 [TBL] [Abstract][Full Text] [Related]
7. [Acute porphyrias: problem of primary diagnosis in Russia and CIS countries]. Karpova IV; Pustovoĭt IaS; Luchinina IuA; Surin VL; Luk'ianenko AV; Kravshenko SK; Kremenetskaia AM Ter Arkh; 2007; 79(8):52-6. PubMed ID: 17926472 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. Solis C; Martinez-Bermejo A; Naidich TP; Kaufmann WE; Astrin KH; Bishop DF; Desnick RJ Arch Neurol; 2004 Nov; 61(11):1764-70. PubMed ID: 15534187 [TBL] [Abstract][Full Text] [Related]
11. Enzymes of the heme biosynthesis pathway: recent advances in molecular genetics. Grandchamp B; Nordmann Y Semin Hematol; 1988 Oct; 25(4):303-11. PubMed ID: 3064311 [No Abstract] [Full Text] [Related]
12. Why is the patient with acute intermittent porphyria not light sensitive? Wetterberg L; Thunell S; Zetterlund P Acta Derm Venereol Suppl (Stockh); 1982; 100():73-4. PubMed ID: 6962637 [TBL] [Abstract][Full Text] [Related]
13. [The porphyria cutanea tarda group: their role among the enzyme defects of heme biosynthesis]. Adrien A; Guillet G Sem Hop; 1984 Apr; 60(16):1148-52. PubMed ID: 6326308 [TBL] [Abstract][Full Text] [Related]
14. Enzyme defects in hereditary porphyria. Civin WH; Epstein E Ann Clin Lab Sci; 1980; 10(5):395-401. PubMed ID: 6999973 [TBL] [Abstract][Full Text] [Related]
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