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Items: 1 to 20 of 163

1.

Prenatal diagnosis of pyruvate kinase deficiency.

Baronciani L, Beutler E.

Blood. 1994 Oct 1;84(7):2354-6.

2.

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.

Fermo E, Bianchi P, Chiarelli LR, Cotton F, Vercellati C, Writzl K, Baker K, Hann I, Rodwell R, Valentini G, Zanella A.

Br J Haematol. 2005 Jun;129(6):839-46. Erratum in: Br J Haematol. 2005 Sep;130(6):973.

PMID:
15953013
3.

First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.

Kedar PS, Nampoothiri S, Sreedhar S, Ghosh K, Shimizu K, Kanno H, Colah RB.

Genet Mol Res. 2007 Jun 30;6(2):470-5.

PMID:
17952871
4.

Fetal anaemia due to pyruvate kinase deficiency.

Gilsanz F, Vega MA, Gómez-Castillo E, Ruiz-Balda JA, Omeñaca F.

Arch Dis Child. 1993 Nov;69(5 Spec No):523-4.

5.

Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.

Lenzner C, Nürnberg P, Thiele BJ, Reis A, Brabec V, Sakalova A, Jacobasch G.

Blood. 1994 May 15;83(10):2817-22.

6.

[Prenatal diagnosis of homozygous pyruvate kinase deficiency].

Afriat R, Lecolier B, Prehu MO, Sauvanet E, Bercau G, Audit I, Galacteros F.

J Gynecol Obstet Biol Reprod (Paris). 1995;24(1):81-4. Review. French.

PMID:
7730575
7.

Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.

Glenn D, Gelbart T, Beutler E.

Hum Genet. 1994 Jun;93(6):635-8.

PMID:
8005587
8.

Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.

Costa C, Albuisson J, Le TH, Max-Audit I, Dinh KT, Tosi M, Goossens M, Pissard S.

Haematologica. 2005 Jan;90(1):25-30.

10.

Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.

Pissard S, Max-Audit I, Skopinski L, Vasson A, Vivien P, Bimet C, Goossens M, Galacteros F, Wajcman H.

Br J Haematol. 2006 Jun;133(6):683-9.

PMID:
16704447
11.

Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.

Baronciani L, Magalhães IQ, Mahoney DH Jr, Westwood B, Adekile AD, Lappin TR, Beutler E.

Blood Cells Mol Dis. 1995;21(1):49-55.

PMID:
7655861
12.

[Congenital hemolytic anemia caused by pyruvate kinase variants (PK 'Kasumi')].

Katoh O, Fujimura K, Kuramoto A, Fujii H, Miwa S, Ohya T, Kajiyama G.

Rinsho Ketsueki. 1988 Mar;29(3):369-74. Review. Japanese. No abstract available.

PMID:
3294473
13.

[A case of congenital non-spherocytic hemolytic anemia caused by enzyme deficiency in pyruvate kinase].

Clavier M, Parent P, Castel Y, Toudic L.

J Genet Hum. 1986 Nov;34(5):425-30. French.

PMID:
3794668
14.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
15.

Pyruvate kinase deficiency: the genotype-phenotype association.

Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G.

Blood Rev. 2007 Jul;21(4):217-31. Review.

PMID:
17360088
16.

The molecular basis of canine pyruvate kinase deficiency.

Whitney KM, Goodman SA, Bailey EM, Lothrop CD Jr.

Exp Hematol. 1994 Aug;22(9):866-74.

PMID:
7520391
17.

[Gene diagnosis of hemolytic anemia].

Miyazaki S.

Nihon Rinsho. 1996 Sep;54(9):2416-22. Review. Japanese.

PMID:
8890572
18.

Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia.

Kugler W, Willaschek C, Holtz C, Ohlenbusch A, Laspe P, Krügener R, Muirhead H, Schröter W, Lakomek M.

Hum Mutat. 2000;15(3):261-72.

PMID:
10679942
19.

[Hereditary hemolytic anemia resulting from erythrocyte enzyme defects. Biochemical, genetic and clinical aspects].

Cohn J, Hanel HK, Sorensen SA, Warburg M.

Ugeskr Laeger. 1976 Sep 20;138(39):2372-6. Danish. No abstract available.

PMID:
135388
20.

[Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].

Li D, Zhang J, Jiao B, Liu Y, Wang Y, Wang Z, Li W, Hou L, Sun Y, Guo H, Guo X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):53-6. doi: 10.3760/cma.j.issn.1003-9406.2016.01.013. Chinese.

PMID:
26829734
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