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Results: 13

1.

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
[PubMed - indexed for MEDLINE]
2.

Large animal models for foamy virus vector gene therapy.

Trobridge GD, Horn PA, Beard BC, Kiem HP.

Viruses. 2012 Dec 7;4(12):3572-88. doi: 10.3390/v4123572. Review.

PMID:
23223198
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.

Machado P, Manco L, Gomes C, Mendes C, Fernandes N, Salomé G, Sitoe L, Chibute S, Langa J, Ribeiro L, Miranda J, Cano J, Pinto J, Amorim A, do Rosário VE, Arez AP.

PLoS One. 2012;7(10):e47071. doi: 10.1371/journal.pone.0047071. Epub 2012 Oct 17.

PMID:
23082140
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency.

Trobridge GD, Beard BC, Wu RA, Ironside C, Malik P, Kiem HP.

PLoS One. 2012;7(9):e45173. doi: 10.1371/journal.pone.0045173. Epub 2012 Sep 13.

PMID:
23028826
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Assessment of the red cell proteome of young patients with unexplained hemolytic anemia by two-dimensional differential in-gel electrophoresis (DIGE).

von Löhneysen K, Scott TM, Soldau K, Xu X, Friedman JS.

PLoS One. 2012;7(4):e34237. doi: 10.1371/journal.pone.0034237. Epub 2012 Apr 3.

PMID:
22509282
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family.

So CC, Tang M, Li CH, Ha SY, Pissard S, Chan LC.

Hematology. 2011 Nov;16(6):377-9. doi: 10.1179/102453311X13127324303317.

PMID:
22183074
[PubMed - indexed for MEDLINE]
7.

Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.

Rider NL, Strauss KA, Brown K, Finkenstedt A, Puffenberger EG, Hendrickson CL, Robinson DL, Muenke N, Tselepis C, Saunders L, Zoller H, Morton DH.

Am J Hematol. 2011 Oct;86(10):827-34. doi: 10.1002/ajh.22118. Epub 2011 Aug 3.

PMID:
21815188
[PubMed - indexed for MEDLINE]
8.

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

Lyon GJ, Jiang T, Van Wijk R, Wang W, Bodily PM, Xing J, Tian L, Robison RJ, Clement M, Lin Y, Zhang P, Liu Y, Moore B, Glessner JT, Elia J, Reimherr F, van Solinge WW, Yandell M, Hakonarson H, Wang J, Johnson WE, Wei Z, Wang K.

Discov Med. 2011 Jul;12(62):41-55.

PMID:
21794208
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene.

Christensen RD, Yaish HM, Johnson CB, Bianchi P, Zanella A.

J Pediatr. 2011 Oct;159(4):695-7. doi: 10.1016/j.jpeds.2011.05.043. Epub 2011 Jul 23.

PMID:
21784452
[PubMed - indexed for MEDLINE]
10.

Severe H1N1-associated acute respiratory failure in immunocompromised children.

Elbahlawan L, Gaur AH, Furman W, Jeha S, Woods T, Norris A, Morrison RR.

Pediatr Blood Cancer. 2011 Oct;57(4):625-8. doi: 10.1002/pbc.22973. Epub 2011 Feb 4.

PMID:
21298770
[PubMed - indexed for MEDLINE]
11.

Red cell pyruvate kinase deficiency in Southern Sardinia.

Perseu L, Giagu N, Satta S, Sollaino MC, Congiu R, Galanello R.

Blood Cells Mol Dis. 2010 Dec 15;45(4):280-3. doi: 10.1016/j.bcmd.2010.08.006. Epub 2010 Sep 25.

PMID:
20870434
[PubMed - indexed for MEDLINE]
12.

The distribution of the parasitic fauna dictates the distribution of the haemochromatosis genes.

Uzoigwe OF.

Med Hypotheses. 2010 Nov;75(5):415-7. doi: 10.1016/j.mehy.2008.12.057. Epub 2010 Aug 12.

PMID:
20708339
[PubMed - indexed for MEDLINE]
13.

Malaria: looking for selection signatures in the human PKLR gene region.

Machado P, Pereira R, Rocha AM, Manco L, Fernandes N, Miranda J, Ribeiro L, do Rosário VE, Amorim A, Gusmão L, Arez AP.

Br J Haematol. 2010 Jun;149(5):775-84. doi: 10.1111/j.1365-2141.2010.08165.x. Epub 2010 Apr 4.

PMID:
20377593
[PubMed - indexed for MEDLINE]

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