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Items: 1 to 20 of 392

1.

Red cell pyruvate kinase deficiency: molecular and clinical aspects.

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

Br J Haematol. 2005 Jul;130(1):11-25. Review.

PMID:
15982340
2.

Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.

Zanella A, Bianchi P.

Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):57-81. Review.

PMID:
10916678
3.

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. Epub 2007 Mar 13. Review.

PMID:
17360088
4.

[From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency].

de Vooght KM, van Wijk R, Nieuwenhuis HK, Ploos van Amstel JK, Rijksen G, van Solinge WW.

Ned Tijdschr Geneeskd. 2002 Sep 28;146(39):1828-31. Dutch.

PMID:
12382367
5.

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia.

Wang C, Chiarelli LR, Bianchi P, Abraham DJ, Galizzi A, Mattevi A, Zanella A, Valentini G.

Blood. 2001 Nov 15;98(10):3113-20.

6.

Pyruvate kinase deficiency.

Miwa S, Fujii H.

Clin Biochem. 1990 Apr;23(2):155-7. Review.

PMID:
2197027
7.

Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH).

Zarza R, Alvarez R, Pujades A, Nomdedeu B, Carrera A, Estella J, Remacha A, Sánchez JM, Morey M, Cortes T, Pérez Lungmus G, Bureo E, Vives Corrons JL.

Br J Haematol. 1998 Nov;103(2):377-82.

PMID:
9827908
8.

Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency.

Kanno H, Utsugisawa T, Aizawa S, Koizumi T, Aisaki K, Hamada T, Ogura H, Fujii H.

Haematologica. 2007 Jun;92(6):731-7.

9.

Mutations in pyruvate kinase.

Beutler E, Baronciani L.

Hum Mutat. 1996;7(1):1-6. Review.

PMID:
8664896
10.

[Hereditary haemolytic anaemia due to pyruvate kinase deficiency. Prognosis of neonatal forms (author's transl)].

Boivin P, Ottenwaelter T.

Nouv Presse Med. 1982 Mar 13;11(12):917-9. French.

PMID:
7063368
11.

Primary structure of murine red blood cell-type pyruvate kinase (PK) and molecular characterization of PK deficiency identified in the CBA strain.

Kanno H, Morimoto M, Fujii H, Tsujimura T, Asai H, Noguchi T, Kitamura Y, Miwa S.

Blood. 1995 Oct 15;86(8):3205-10.

12.

Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.

Kedar P, Hamada T, Warang P, Nadkarni A, Shimizu K, Fujji H, Ghosh K, Kanno H, Colah R.

Clin Genet. 2009 Feb;75(2):157-62. doi: 10.1111/j.1399-0004.2008.01079.x. Epub 2008 Aug 28.

PMID:
18759866
13.
14.
15.

Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.

Zanella A, Bianchi P, Fermo E, Iurlo A, Zappa M, Vercellati C, Boschetti C, Baronciani L, Cotton F.

Br J Haematol. 2001 Apr;113(1):43-8.

PMID:
11328279
16.

Molecular modelling of human red blood cell pyruvate kinase: structural implications of a novel G1091 to a mutation causing severe nonspherocytic hemolytic anemia.

van Solinge WW, Kraaijenhagen RJ, Rijksen G, van Wijk R, Stoffer BB, Gajhede M, Nielsen FC.

Blood. 1997 Dec 15;90(12):4987-95.

17.

Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.

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

Br J Haematol. 2006 Apr;133(2):113-23. Review.

PMID:
16611302
18.

Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients.

Zanella A, Bianchi P, Baronciani L, Zappa M, Bredi E, Vercellati C, Alfinito F, Pelissero G, Sirchia G.

Blood. 1997 May 15;89(10):3847-52.

19.

A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.

Manco L, Ribeiro ML, Máximo V, Almeida H, Costa A, Freitas O, Barbot J, Abade A, Tamagnini G.

Br J Haematol. 2000 Sep;110(4):993-7.

PMID:
11054094
20.

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

van Wijk R, Huizinga EG, van Wesel AC, van Oirschot BA, Hadders MA, van Solinge WW.

Hum Mutat. 2009 Mar;30(3):446-53. doi: 10.1002/humu.20915.

PMID:
19085939

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