300 related articles for article (PubMed ID: 29317194)
1. Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria.
Lin CN; Huang YC; Ro LS; Liao MF; Ning HC; Kuo HC
Clin Chim Acta; 2018 Apr; 479():1-6. PubMed ID: 29317194
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.
Unzu C; Sampedro A; Mauleón I; Vanrell L; Dubrot J; de Salamanca RE; González-Aseguinolaza G; Melero I; Prieto J; Fontanellas A
J Hepatol; 2010 Mar; 52(3):417-24. PubMed ID: 19815305
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Kauppinen R; von und zu Fraunberg M
Clin Chem; 2002 Nov; 48(11):1891-900. PubMed ID: 12406973
[TBL] [Abstract][Full Text] [Related]
6. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
Kauppinen R; Mustajoki S; Pihlaja H; Peltonen L; Mustajoki P
Hum Mol Genet; 1995 Feb; 4(2):215-22. PubMed ID: 7757070
[TBL] [Abstract][Full Text] [Related]
7. Haem precursors and porphobilinogen deaminase in erythrocytes and lymphocytes of patients with acute intermittent porphyria.
Gross U; Jacob K; Frank M; Doss MO
Cell Mol Biol (Noisy-le-grand); 1997 Feb; 43(1):29-35. PubMed ID: 9074786
[TBL] [Abstract][Full Text] [Related]
8. Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods.
Andersson C; Thunell S; Floderus Y; Forsell C; Lundin G; Anvret M; Lannfelt L; Wetterberg L; Lithner F
J Intern Med; 1995 Mar; 237(3):301-8. PubMed ID: 7891051
[TBL] [Abstract][Full Text] [Related]
9. Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France.
Nordmann Y; Puy H; Da Silva V; Simonin S; Robreau AM; Bonaiti C; Phung LN; Deybach JC
J Intern Med; 1997 Sep; 242(3):213-7. PubMed ID: 9350165
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. 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]
12. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.
Puy H; Gross U; Deybach JC; Robréau AM; Frank M; Nordmann Y; Doss M
Hum Genet; 1998 Nov; 103(5):570-5. PubMed ID: 9860299
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
Yang J; Wang H; Yin K; Hua B; Zhu T; Zhao Y; Guo S; Yu X; Wu W; Zhou Z
Gene; 2015 Jul; 565(2):288-90. PubMed ID: 25870942
[TBL] [Abstract][Full Text] [Related]
16. Determination of porphobilinogen deaminase activity in human erythrocytes: pertinent factors in obtaining optimal conditions for measurements.
Erlandsen EJ; Jørgensen PE; Markussen S; Brock A
Scand J Clin Lab Invest; 2000 Nov; 60(7):627-34. PubMed ID: 11202055
[TBL] [Abstract][Full Text] [Related]
17. Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.
Fraunberg MVUZ; Pischik E; Udd L; Kauppinen R
Medicine (Baltimore); 2005 Jan; 84(1):35-47. PubMed ID: 15643298
[TBL] [Abstract][Full Text] [Related]
18. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
Whatley SD; Mason NG; Woolf JR; Newcombe RG; Elder GH; Badminton MN
Clin Chem; 2009 Jul; 55(7):1406-14. PubMed ID: 19460837
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency.
Collantes M; Serrano-Mendioroz I; Benito M; Molinet-Dronda F; Delgado M; Vinaixa M; Sampedro A; Enríquez de Salamanca R; Prieto E; Pozo MA; Peñuelas I; Corrales FJ; Barajas M; Fontanellas A
Hum Mol Genet; 2016 Apr; 25(7):1318-27. PubMed ID: 26908609
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
