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Items: 1 to 20 of 125

1.

Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred.

Turner G, Fletcher J, Elber J, Yanagawa Y, Davé V, Yoshida A.

Br J Haematol. 1995 Sep;91(1):60-5.

PMID:
7577653
2.

Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.

Ookawara T, Davé V, Willems P, Martin JJ, de Barsy T, Matthys E, Yoshida A.

Arch Biochem Biophys. 1996 Mar 1;327(1):35-40.

PMID:
8615693
3.

Structure and function of normal and variant human phosphoglycerate kinase.

Huang IY, Fujii H, Yoshida A.

Hemoglobin. 1980;4(5-6):601-9.

PMID:
7440217
4.

Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama).

Yoshida A, Twele TW, Davé V, Beutler E.

Blood Cells Mol Dis. 1995;21(3):179-81.

PMID:
8673469
5.
7.

Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation.

Maeda M, Bawle EV, Kulkarni R, Beutler E, Yoshida A.

Blood. 1992 May 15;79(10):2759-62.

8.

Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens.

Cohen-Solal M, Valentin C, Plassa F, Guillemin G, Danze F, Jaisson F, Rosa R.

Blood. 1994 Aug 1;84(3):898-903.

9.
10.

Phosphoglycerate kinase abnormalities: functional, structural and genomic aspects.

Yoshida A, Tani K.

Biomed Biochim Acta. 1983;42(11-12):S263-7.

PMID:
6689547
11.

Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia.

Krietsch WK, Krietsch H, Kaiser W, Dünnwald M, Kuntz GW, Duhm J, Bücher T.

Eur J Clin Invest. 1977 Oct;7(5):427-35.

PMID:
411673
14.

A phosphoglycerate kinase variant, PGK Uppsala, associated with hemolytic anemia.

Hjelm M, Wadam B, Yoshida A.

J Lab Clin Med. 1980 Dec;96(6):1015-21.

PMID:
7430759
15.

Erythrocyte phosphoglycerate kinase deficiency: enzymatic and oxygen binding studies.

Dodgson SJ, Lee CS, Holland RA, O'Sullivan WJ, Vowels MR.

Aust N Z J Med. 1980 Dec;10(6):614-21.

PMID:
6938182
16.

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.

Fermo E, Bianchi P, Chiarelli LR, Maggi M, Mandarà GM, Vercellati C, Marcello AP, Barcellini W, Cortelezzi A, Valentini G, Zanella A.

Mol Genet Metab. 2012 Aug;106(4):455-61. doi: 10.1016/j.ymgme.2012.05.015. Epub 2012 May 30.

PMID:
22705348
17.
18.

A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis.

Morimoto A, Ueda I, Hirashima Y, Sawai Y, Usuku T, Kano G, Kuriyama K, Todo S, Sugimoto T, Kanno H, Fujii H, Imashuku S.

Br J Haematol. 2003 Sep;122(6):1009-13. Review.

PMID:
12956773
19.

PGK deficiency.

Beutler E.

Br J Haematol. 2007 Jan;136(1):3-11. Review.

PMID:
17222195
20.

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