Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 408

1.

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
2.

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
3.

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.

4.

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
5.

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
6.

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
7.

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
8.

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
9.

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
10.

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.

11.

PK-LR gene mutations in pyruvate kinase deficient Portuguese patients.

Manco L, Ribeiro ML, Almeida H, Freitas O, Abade A, Tamagnini G.

Br J Haematol. 1999 Jun;105(3):591-5.

PMID:
10354117
12.

Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.

Warang P, Kedar P, Ghosh K, Colah R.

Blood Cells Mol Dis. 2013 Oct;51(3):133-7. doi: 10.1016/j.bcmd.2013.05.006. Epub 2013 Jun 14.

PMID:
23770304
13.

Erythrocyte pyruvate kinase deficiency: 11 new cases.

Zanella A, Colombo MB, Miniero R, Perroni L, Meloni T, Sirchia G.

Br J Haematol. 1988 Jul;69(3):399-404.

PMID:
3408673
14.
15.
16.

Erythrocyte pyruvate kinase deficiency. The influence of physiologically important metabolites on the function of normal and defective enzymes.

Lakomek M, Winkler H, Pekrun A, Krüger N, Sander M, Huppke P, Schröter W.

Enzyme Protein. 1994-1995;48(3):149-63.

PMID:
8589802
17.

Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.

van Wijk R, van Solinge WW, Nerlov C, Beutler E, Gelbart T, Rijksen G, Nielsen FC.

Blood. 2003 Feb 15;101(4):1596-602. Epub 2002 Sep 26.

18.

Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France.

Rouger H, Valentin C, Craescu CT, Galactéros F, Cohen-Solal M.

Br J Haematol. 1996 Mar;92(4):825-30.

PMID:
8616073
19.

Simultaneous inheritance of mutant isoenzymes of erythrocyte pyruvate kinase associated with chronic haemolytic anaemia.

Pagila DE, Gray GR, Growe GH, Valentine WN.

Br J Haematol. 1976 Sep;34(1):61-8.

PMID:
952770
20.

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.

Items per page

Supplemental Content

Write to the Help Desk