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Items: 1 to 20 of 115

1.

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.

Pallet N, Mami I, Schmitt C, Karim Z, François A, Rabant M, Nochy D, Gouya L, Deybach JC, Xu-Dubois Y, Thervet E, Puy H, Karras A.

Kidney Int. 2015 Aug;88(2):386-95. doi: 10.1038/ki.2015.97. Epub 2015 Apr 1.

PMID:
25830761
2.

Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse.

Unzu C, Sampedro A, Sardh E, Mauleón I, Enríquez de Salamanca R, Prieto J, Salido E, Harper P, Fontanellas A.

PLoS One. 2012;7(3):e32978. doi: 10.1371/journal.pone.0032978. Epub 2012 Mar 6.

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. doi: 10.1016/j.jhep.2009.09.003. Epub 2009 Sep 23.

4.

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
5.

Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism.

Luder AS, Mamet R, Farbstein I, Schoenfeld N.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):19-22.

PMID:
19267997
6.

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.

Lenglet H, Schmitt C, Grange T, Manceau H, Karboul N, Bouchet-Crivat F, Robreau AM, Nicolas G, Lamoril J, Simonin S, Mirmiran A, Karim Z, Casalino E, Deybach JC, Puy H, Peoc'h K, Gouya L.

Hum Mol Genet. 2018 Apr 1;27(7):1164-1173. doi: 10.1093/hmg/ddy030.

PMID:
29360981
7.

Effects of volatile anaesthetics on heme metabolism in a murine genetic model of Acute Intermittent Porphyria. A comparative study with other porphyrinogenic drugs.

Ruspini SF, Zuccoli JR, Lavandera JV, Martínez MDC, Oliveri LM, Gerez EN, Batlle AMDC, Buzaleh AM.

Biochim Biophys Acta Gen Subj. 2018 Jun;1862(6):1296-1305. doi: 10.1016/j.bbagen.2018.02.013. Epub 2018 Feb 22.

PMID:
29476795
8.

[Acute intermittent porphyria: Long-term follow up of 35 patients].

Herrero C, Badenas C, Aguilera P, To-Figueras J.

Med Clin (Barc). 2015 Oct 21;145(8):332-7. doi: 10.1016/j.medcli.2014.06.012. Epub 2014 Sep 4. Spanish.

PMID:
25194977
9.
10.

Combined liver and kidney transplantation in acute intermittent porphyria.

Wahlin S, Harper P, Sardh E, Andersson C, Andersson DE, Ericzon BG.

Transpl Int. 2010 Jun;23(6):e18-21. doi: 10.1111/j.1432-2277.2009.01035.x. Epub 2009 Dec 16.

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.

PMID:
11857754
12.

Prevalence of acute intermittent porphyria in a Mexican psychiatric population.

Jara-Prado A, Yescas P, Sánchez FJ, Ríos C, Garnica R, Alonso E.

Arch Med Res. 2000 Jul-Aug;31(4):404-8.

PMID:
11068084
14.
15.

Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium.

Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Phillips JD, Naik H, Peter I, Baillargeon G, Bossi K, Gandolfo L, Light C, Bishop D, Desnick RJ.

Am J Med. 2014 Dec;127(12):1233-41. doi: 10.1016/j.amjmed.2014.06.036. Epub 2014 Jul 10.

16.

Acute intermittent porphyria and chronic renal failure.

Marsden JT, Chowdhury P, Wang J, Deacon A, Dutt N, Peters TJ, Macdougall IC.

Clin Nephrol. 2008 May;69(5):339-46.

PMID:
18538096
17.

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.

18.

delta-Aminolevulinic acid effects on neuronal and glial tumor cell lines.

Helson L, Braverman S, Mangiardi J.

Neurochem Res. 1993 Dec;18(12):1255-8.

PMID:
8272191
19.

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses.

Clavero S, Ahuja Y, Bishop DF, Kwait B, Haskins ME, Giger U, Desnick RJ.

Vet J. 2013 Dec;198(3):720-2. doi: 10.1016/j.tvjl.2013.10.008. Epub 2013 Oct 10.

20.

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