229 related articles for article (PubMed ID: 18405488)
1. [Acute intermittent porphyria and chronic transaminase elevation].
Raigal Martín MY; Lledó Navarro JL; Raigal Martín JM; Muriel Patino E; Pérez Pérez E; Moreno Prat M
Gastroenterol Hepatol; 2008 Apr; 31(4):225-8. PubMed ID: 18405488
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion.
Sardh E; Rejkjaer L; Andersson DE; Harper P
Clin Pharmacokinet; 2007; 46(4):335-49. PubMed ID: 17375984
[TBL] [Abstract][Full Text] [Related]
4. [Subclinical acute intermittent porphyria. An uncommon cause of chronic hepatitis].
Pérez Martínez J; Castro Márquez C; Pereira Gallardo S; Jiménez Sáenz M; Herrerías Gutiérrez JM
Gastroenterol Hepatol; 2011 Apr; 34(4):262-5. PubMed ID: 21477889
[TBL] [Abstract][Full Text] [Related]
5. Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.
Szlendak U; Lipniacka A; Bianketti J; Podolak-Dawidziak M; Bykowska K
Adv Clin Exp Med; 2015; 24(1):63-8. PubMed ID: 25923088
[TBL] [Abstract][Full Text] [Related]
6. Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte porphobilinogen deaminase activity in Germany.
Gross U; Honcamp M; Doss MO
Eur J Clin Chem Clin Biochem; 1996 Aug; 34(8):613-8. PubMed ID: 8877336
[TBL] [Abstract][Full Text] [Related]
7. Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.
Schuurmans MM; Schneider-Yin X; Rüfenacht UB; Schnyder C; Minder CE; Puy H; Deybach JC; Minder EI
Mol Med; 2001 Aug; 7(8):535-42. PubMed ID: 11591889
[TBL] [Abstract][Full Text] [Related]
8. [A family of acute intermittent porphyria].
Igarashi M; Daimon M; Usuki K; Hirai Y; Nakahara F; Iijima K; Iki S; Kondo M; Kato T; Urabe A
Rinsho Ketsueki; 2004 Jul; 45(7):562-7. PubMed ID: 15359917
[TBL] [Abstract][Full Text] [Related]
9. Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria.
Schreiber WE; Fong F; Jamani A
Hum Genet; 1994 May; 93(5):552-6. PubMed ID: 8168833
[TBL] [Abstract][Full Text] [Related]
10. Porphobilinogen deaminase gene structure and molecular defects.
Deybach JC; Puy H
J Bioenerg Biomembr; 1995 Apr; 27(2):197-205. PubMed ID: 7592566
[TBL] [Abstract][Full Text] [Related]
11. R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: the first report.
Chen MC; Chang CJ; Lu YH; Niu DM; Lou HY; Chang CC
J Clin Gastroenterol; 2015 Mar; 49(3):256-7. PubMed ID: 25389600
[No Abstract] [Full Text] [Related]
12. [Clinical characteristics of 50 patients with acute intermittent porphyria].
Wang Y; Chen XY; Li Y; Dong XH; Xu F
Zhonghua Nei Ke Za Zhi; 2019 Jul; 58(7):520-524. PubMed ID: 31269569
[No Abstract] [Full Text] [Related]
13. Acute intermittent porphyria: laboratory diagnosis by molecular methods.
Schreiber WE
Clin Lab Med; 1995 Dec; 15(4):943-56. PubMed ID: 8838232
[TBL] [Abstract][Full Text] [Related]
14. Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
Mustajoki S; Laine M; Lahtela M; Mustajoki P; Peltonen L; Kauppinen R
Mol Med; 2000 Aug; 6(8):670-9. PubMed ID: 11055586
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Anesthesia in a child with homozygous porphobilinogen deaminase deficiency: a severe form of acute intermittent porphyria.
Sheppard L; Dorman T
Paediatr Anaesth; 2005 May; 15(5):426-8. PubMed ID: 15828996
[TBL] [Abstract][Full Text] [Related]
17. Acute intermittent porphyria: rapid molecular diagnosis.
Puy H; Aquaron R; Lamoril J; Robréau AM; Nordmann Y; Deybach JC
Cell Mol Biol (Noisy-le-grand); 1997 Feb; 43(1):37-45. PubMed ID: 9074787
[TBL] [Abstract][Full Text] [Related]
18. A Perfect Storm: Abdominal Pain and Ileus Explained by Acute Intermittent Porphyria Caused by Prehospitalization and Intrahospitalization Factors.
Ortega AJ; Cherukuri S; Kalas MA; Lee B; Guzman J; Robles A; Zuckerman MJ; Al-Bayati I
J Investig Med High Impact Case Rep; 2022; 10():23247096221109206. PubMed ID: 35762500
[TBL] [Abstract][Full Text] [Related]
19. Acute intermittent porphyria presenting with a subarachnoid haemorrhage.
van Heyningen C; Simms DM
Ann Clin Biochem; 2008 Nov; 45(Pt 6):610-1. PubMed ID: 18782811
[TBL] [Abstract][Full Text] [Related]
20. Acute intermittent porphyria: diagnostic conundrums.
Wassif WS; Deacon AC; Floderus Y; Thunell S; Peters TJ
Eur J Clin Chem Clin Biochem; 1994 Dec; 32(12):915-21. PubMed ID: 7696440
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]