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Items: 1 to 20 of 113

1.

Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation.

Kong XF, Han Y, Li XH, Gao DY, Zhang XX, Gong QM.

Gene. 2013 Jul 25;524(2):401-2. doi: 10.1016/j.gene.2013.03.130. Epub 2013 Apr 29.

PMID:
23639962
2.

A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.

Jiao H, Xianfeng Z, Hui H; MaLizhen, Yuhong Z, Chu Z.

J Pak Med Assoc. 2015 Aug;65(8):898-900.

3.

[Three single nucleotide polymorphisms of porphobilinogen deaminase gene related to a Chinese patient with acute intermittent porphyria].

Cao XP, Su L, Xiao HP, Liu YY, Li YB, Xiu LL.

Zhonghua Yi Xue Za Zhi. 2008 Sep 9;88(34):2414-6. Chinese.

PMID:
19087719
4.

Novel A219P mutation of hydroxymethylbilane synthase identified in a Chinese woman with acute intermittent porphyria and syndrome of inappropriate antidiuretic hormone.

Li Y, Qu H, Wang H, Deng H, Liu Z.

Ann Hum Genet. 2015 Jul;79(4):310-2. doi: 10.1111/ahg.12107. Epub 2015 Mar 18.

PMID:
25787008
5.

Identification of two novel PBGD mutations in acute intermittent porphyria patients accompanying anemia in mainland China.

Liu G, Li X, Shu H, Hu YL, Anderson G, Qian J, Nie G.

Blood Cells Mol Dis. 2011 Aug 15;47(2):138-9. doi: 10.1016/j.bcmd.2011.05.004. Epub 2011 Jun 12. No abstract available.

PMID:
21669542
6.

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 10;565(2):288-90. doi: 10.1016/j.gene.2015.04.027. Epub 2015 Apr 11.

PMID:
25870942
7.

[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
8.

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 Jan-Feb;24(1):63-8. doi: 10.17219/acem/34555.

9.

[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. Japanese.

PMID:
15359917
10.

Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.

Lundin G, Lee JS, Thunell S, Anvret M.

Hum Genet. 1997 Jul;100(1):63-6.

PMID:
9225970
11.

A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria.

Susa S, Daimon M, Kato T, Maeda N.

Blood Cells Mol Dis. 2013 Aug;51(2):130-1. doi: 10.1016/j.bcmd.2013.02.008. Epub 2013 Apr 10. No abstract available.

PMID:
23582379
12.

Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.

Robreau-Fraolini AM, Puy H, Aquaron C, Bogard C, Traore M, Nordmann Y, Aquaron R, Deybach JC.

Hum Genet. 2000 Aug;107(2):150-9.

PMID:
11030413
14.

Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.

Schneider-Yin X, Bogard C, Rüfenacht UB, Puy H, Nordmann Y, Minder EI, Deybach J.

Hum Hered. 2000 Jul-Aug;50(4):247-50.

PMID:
10782018
15.

Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.

Rosipal R, Puy H, Lamoril J, Martasek P, Nordmann Y, Deybach JC.

Scand J Clin Lab Invest. 1997 May;57(3):217-24.

PMID:
9238757
16.
17.

A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria.

Maeda N, Horie Y, Sasaki Y, Ueta E, Adachi K, Nanba E, Kawasaki H, Kudo Y, Kondo M.

Clin Biochem. 1999 Aug;32(6):411-7.

PMID:
10667475
18.

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

Puy H, Deybach JC, Lamoril J, Robreau AM, Da Silva V, Gouya L, Grandchamp B, Nordmann Y.

Am J Hum Genet. 1997 Jun;60(6):1373-83.

19.

Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.

de Rooij FW, Kavelaars FG, Koole-Lesuis H, Wilson JH.

Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):64-9.

PMID:
19656453
20.
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