Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 271

1.

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
2.

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
3.

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
4.

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
5.

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
6.

[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
7.

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
10.

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.

11.

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
12.

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
13.

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
14.

Red cell enzymopathies as a model of inborn errors of metabolism.

Miwa S, Kanno H, Hirono A, Fujii H.

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:112-9. Review.

PMID:
8629088
15.

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.

16.

Pyruvate kinase deficiency.

Miwa S, Fujii H.

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

PMID:
2197027
17.
18.

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

Supplemental Content

Support Center