These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene. Astrin KH; Desnick RJ Hum Mutat; 1994; 4(4):243-52. PubMed ID: 7866402 [TBL] [Abstract][Full Text] [Related]
3. Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria. Johansson A; Nowak G; Möller C; Harper P Mol Genet Metab; 2004 May; 82(1):20-6. PubMed ID: 15110317 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. De Siervi A; Rossetti MV; Parera VE; Astrin KH; Aizencang GI; Glass IA; Batlle AM; Desnick RJ Am J Med Genet; 1999 Oct; 86(4):366-75. PubMed ID: 10494093 [TBL] [Abstract][Full Text] [Related]
6. Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide. Lee GY; Astrin KH; Desnick RJ Am J Med Genet; 1995 Aug; 58(2):155-8. PubMed ID: 8533808 [TBL] [Abstract][Full Text] [Related]
7. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Lindberg RL; Porcher C; Grandchamp B; Ledermann B; Bürki K; Brandner S; Aguzzi A; Meyer UA Nat Genet; 1996 Feb; 12(2):195-9. PubMed ID: 8563760 [TBL] [Abstract][Full Text] [Related]
11. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. Gregor A; Schneider-Yin X; Szlendak U; Wettstein A; Lipniacka A; Rüfenacht UB; Minder EI Hum Mutat; 2002 Mar; 19(3):310. PubMed ID: 11857754 [TBL] [Abstract][Full Text] [Related]
12. CRIM-positive mutations of acute intermittent porphyria in Finland. Kauppinen R; Peltonen L; Pihlaja H; Mustajoki P Hum Mutat; 1992; 1(5):392-6. PubMed ID: 1301948 [TBL] [Abstract][Full Text] [Related]
13. [Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia]. Surin VL; Luk'ianenko AV; Karpova IV; Misiurin AV; Pustovot IaS; Pivnik AV Genetika; 2001 May; 37(5):690-7. PubMed ID: 11436563 [TBL] [Abstract][Full Text] [Related]
14. Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries. Prabahar MR; Manorajan R; Sathiyakumar D; Soundararajan P; Jayakumar M Hemodial Int; 2008 Jan; 12(1):34-8. PubMed ID: 18271838 [TBL] [Abstract][Full Text] [Related]
15. Acute intermittent porphyria. Herrick AL; McColl KE Best Pract Res Clin Gastroenterol; 2005 Apr; 19(2):235-49. PubMed ID: 15833690 [TBL] [Abstract][Full Text] [Related]
16. An odd case of heteroallelic acute intermittent porphyria in the Argentinean population. Piñeiro Pauwels MB; Gerez EN; Martinez MC; Melito VA; Parera VE; Batlle A; Rossetti MV Cell Mol Biol (Noisy-le-grand); 2013 Mar; 59 Suppl():OL1855-60. PubMed ID: 23522335 [TBL] [Abstract][Full Text] [Related]
17. A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria. Yu S; Poulos V; Stewart P J Hum Genet; 2000; 45(6):367-9. PubMed ID: 11185747 [TBL] [Abstract][Full Text] [Related]
18. Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M). De Siervi A; Weiss Cádiz DE; Parera VE; del C Batlle AM; Rossetti MV Hum Mutat; 2000 Oct; 16(4):373. PubMed ID: 11013452 [TBL] [Abstract][Full Text] [Related]
19. Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations. von Brasch L; Zang C; Haverkamp T; Schlechte H; Heckers H; Petrides PE Blood Cells Mol Dis; 2004; 32(2):309-14. PubMed ID: 15003823 [TBL] [Abstract][Full Text] [Related]