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Results: 1 to 20 of 266

1.

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.

PMID:
11055586
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria.

Grünberg-Etkovitz N, Greenbaum L, Grinblat B, Malik Z.

Biochim Biophys Acta. 2006 Sep;1762(9):819-27. Epub 2006 Jul 22.

PMID:
16935474
[PubMed - indexed for MEDLINE]
Free Article
3.

Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

Mustajoki S, Kauppinen R, Mustajoki P, Suomalainen A, Peltonen L.

Genome Res. 1997 Nov;7(11):1054-60.

PMID:
9371741
[PubMed - indexed for MEDLINE]
Free Article
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. doi: 10.1111/j.1742-4658.2009.06946.x.

PMID:
19292878
[PubMed - indexed for MEDLINE]
5.

CRIM-positive mutations of acute intermittent porphyria in Finland.

Kauppinen R, Peltonen L, Pihlaja H, Mustajoki P.

Hum Mutat. 1992;1(5):392-6.

PMID:
1301948
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
11591889
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.

Ulbrichova D, Schneider-Yin X, Mamet R, Saudek V, Martasek P, Minder EI, Schoenfeld N.

Blood Cells Mol Dis. 2009 Mar-Apr;42(2):167-73. doi: 10.1016/j.bcmd.2008.11.001. Epub 2009 Jan 12.

PMID:
19138865
[PubMed - indexed for MEDLINE]
8.

[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. Russian.

PMID:
11436563
[PubMed - indexed for MEDLINE]
9.

Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.

von und zu Fraunberg M, Pischik E, Udd L, Kauppinen R.

Medicine (Baltimore). 2005 Jan;84(1):35-47.

PMID:
15643298
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
9860299
[PubMed - indexed for MEDLINE]
11.

Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.

Floderus Y, Shoolingin-Jordan PM, Harper P.

Clin Genet. 2002 Oct;62(4):288-97.

PMID:
12372055
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
11857754
[PubMed - indexed for MEDLINE]
13.

The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.

Andersson C, Floderus Y, Wikberg A, Lithner F.

Scand J Clin Lab Invest. 2000 Nov;60(7):643-8.

PMID:
11202057
[PubMed - indexed for MEDLINE]
15.

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ.

Hum Mol Genet. 2010 Feb 15;19(4):584-96. doi: 10.1093/hmg/ddp525. Epub 2009 Nov 24.

PMID:
19934113
[PubMed - indexed for MEDLINE]
Free PMC Article
16.
17.

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.

PMID:
11013452
[PubMed - indexed for MEDLINE]
18.

Insertion of Alu element responsible for acute intermittent porphyria.

Mustajoki S, Ahola H, Mustajoki P, Kauppinen R.

Hum Mutat. 1999;13(6):431-8.

PMID:
10408772
[PubMed - indexed for MEDLINE]
19.

Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase.

Ong PM, Lanyon WG, Graham G, Hift RJ, Halkett J, Moore MR, Connor JM.

Mol Cell Probes. 1997 Aug;11(4):293-6.

PMID:
9281416
[PubMed - indexed for MEDLINE]
20.

Porphobilinogen deaminase gene structure and molecular defects.

Deybach JC, Puy H.

J Bioenerg Biomembr. 1995 Apr;27(2):197-205. Review.

PMID:
7592566
[PubMed - indexed for MEDLINE]

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