Bianchi P - Search Results

1

The variable manifestations of disease in pyruvate kinase deficiency and their management.

Al-Samkari H, Van Beers EJ, Kuo KHM, Barcellini W, Bianchi P, Glenthøj A, Del Mar Mañú Pereira M, Van Wijk R, Glader B, Grace RF. Al-Samkari H, et al. Among authors: bianchi p. Haematologica. 2020 Sep 1;105(9):2229-2239. doi: 10.3324/haematol.2019.240846. Haematologica. 2020. PMID: 33054048 Free PMC article.

2

Increased resistance of PIG-A- bone marrow progenitors to tumor necrosis factor a and interferon gamma: possible implications for the in vivo dominance of paroxysmal nocturnal hemoglobinuria clones.

Barcellini W, Fermo E, Guia Imperiali F, Zaninoni A, Bianchi P, Boschetti C, Zanella A. Barcellini W, et al. Among authors: bianchi p. Haematologica. 2004 Jun;89(6):651-6. Haematologica. 2004. PMID: 15194531

3

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. Fermo E, et al. Among authors: bianchi p. Br J Haematol. 2005 Jun;129(6):839-46. doi: 10.1111/j.1365-2141.2005.05520.x. Br J Haematol. 2005. PMID: 15953013 Free article.

4

Red cell pyruvate kinase deficiency: molecular and clinical aspects.

Zanella A, Fermo E, Bianchi P, Valentini G. Zanella A, et al. Among authors: bianchi p. Br J Haematol. 2005 Jul;130(1):11-25. doi: 10.1111/j.1365-2141.2005.05527.x. Br J Haematol. 2005. PMID: 15982340 Free article. Review.

5

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

Zanella A, Bianchi P, Fermo E, Valentini G. Zanella A, et al. Among authors: bianchi p. Br J Haematol. 2006 Apr;133(2):113-23. doi: 10.1111/j.1365-2141.2006.05992.x. Br J Haematol. 2006. PMID: 16611302 Free article. Review.

6

Pyruvate kinase deficiency: the genotype-phenotype association.

Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Zanella A, et al. Among authors: bianchi p. Blood Rev. 2007 Jul;21(4):217-31. doi: 10.1016/j.blre.2007.01.001. Epub 2007 Mar 13. Blood Rev. 2007. PMID: 17360088 Review.

7

Pyruvate kinase deficiency.

Zanella A, Bianchi P, Fermo E. Zanella A, et al. Among authors: bianchi p. Haematologica. 2007 Jun;92(6):721-3. doi: 10.3324/haematol.11469. Haematologica. 2007. PMID: 17550841 Free article. Review. No abstract available.

8

Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.

Fermo E, Bianchi P, Vercellati C, Marcello AP, Garatti M, Marangoni O, Barcellini W, Zanella A. Fermo E, et al. Among authors: bianchi p. Blood Cells Mol Dis. 2008 Jul-Aug;41(1):50-5. doi: 10.1016/j.bcmd.2008.02.002. Epub 2008 Mar 17. Blood Cells Mol Dis. 2008. PMID: 18343696

9

A case of congenital red cell pyruvate kinase deficiency associated with hereditary stomatocytosis.

Marcello AP, Vercellati C, Fermo E, Bianchi P, Zaninoni A, Barcellini W, Zanella A. Marcello AP, et al. Among authors: bianchi p. Blood Cells Mol Dis. 2008 Nov-Dec;41(3):261-2. doi: 10.1016/j.bcmd.2008.07.001. Epub 2008 Aug 16. Blood Cells Mol Dis. 2008. PMID: 18708292 No abstract available.

10

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A, Marcello AP, Righetti PG, Zanella A. Bianchi P, et al. Hum Mutat. 2009 Sep;30(9):1292-8. doi: 10.1002/humu.21077. Hum Mutat. 2009. PMID: 19621418

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