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Items: 11

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.
3.

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
4.

PGK deficiency.

Beutler E.

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

PMID:
17222195
5.

Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.

Corrons JL, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E.

Br J Haematol. 2001 Feb;112(2):475-82. Review.

PMID:
11167850
6.

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
7.

Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later.

Vives i Corrons JL.

Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):103-18. Review.

PMID:
10916681
8.

Chronic haemolytic anaemia and glucose-6 phosphate dehydrogenase deficiency. Case report and review of the literature.

Hundsdoerfer P, Vetter B, Kulozik AE.

Acta Haematol. 2002;108(2):102-5. Review.

PMID:
12187030
9.

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
10.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
11.

Multiple genotypes, multiple phenotypes, and partial defects.

Kark RA, Becker DM.

Muscle Nerve. 1981 Jan-Feb;4(1):31-40. Review.

PMID:
7015120
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