pmc logo image
Logo of jclinpathJournal of Clinical PathologyCurrent TOCInstructions for authors
Journal List > J Clin Pathol > v.52(4); Apr 1999

Formats:
J Clin Pathol. 1999 April; 52(4): 241–244.
PMCID: PMC501323
Copyright notice
The molecular basis of disorders of red cell enzymes.
M F McMullin
Department of Haematology, Queen's University of Belfast, UK. M.McMullin@qub.ac.uk
Small right arrow pointing to: This article has been cited by other articles in PMC.
Full text
Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (597K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.
 
icon of scanned page 241
241
icon of scanned page 242
242
icon of scanned page 243
243
icon of scanned page 244
244
 
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
  • Arya R, Layton DM, Bellingham AJ. Hereditary red cell enzymopathies. Blood Rev. 1995 Sep;9(3):165–175. [PubMed]
  • Miwa S, Fujii H. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes. Am J Hematol. 1996 Feb;51(2):122–132. [PubMed]
  • Baronciani L, Magalhães IQ, Mahoney DH, Jr, Westwood B, Adekile AD, Lappin TR, Beutler E. Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia. Blood Cells Mol Dis. 1995;21(1):49–55. [PubMed]
  • Kanno H, Fujii H, Wei DC, Chan LC, Hirono A, Tsukimoto I, Miwa S. Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency. Blood. 1997 Jun 1;89(11):4213–4218. [PubMed]
  • Lenzner C, Nürnberg P, Jacobasch G, Gerth C, Thiele BJ. Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia. Blood. 1997 Mar 1;89(5):1793–1799. [PubMed]
  • Zanella A, Bianchi P, Baronciani L, Zappa M, Bredi E, Vercellati C, Alfinito F, Pelissero G, Sirchia G. Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. Blood. 1997 May 15;89(10):3847–3852. [PubMed]
  • Bianchi M, Magnani M. Hexokinase mutations that produce nonspherocytic hemolytic anemia. Blood Cells Mol Dis. 1995;21(1):2–8. [PubMed]
  • Kanno H, Fujii H, Hirono A, Ishida Y, Ohga S, Fukumoto Y, Matsuzawa K, Ogawa S, Miwa S. Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. Blood. 1996 Sep 15;88(6):2321–2325. [PubMed]
  • Baronciani L, Zanella A, Bianchi P, Zappa M, Alfinito F, Iolascon A, Tannoia N, Beutler E, Sirchia G. Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. Blood. 1996 Sep 15;88(6):2306–2310. [PubMed]
  • Schneider A, Westwood B, Yim C, Prchal J, Berkow R, Labotka R, Warrier R, Beutler E. Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families. Am J Hematol. 1995 Dec;50(4):263–268. [PubMed]
  • Schneider A, Westwood B, Yim C, Prchal J, Berkow R, Labotka R, Warrier R, Beutler E. Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families. Am J Hematol. 1995 Dec;50(4):263–268. [PubMed]
  • Arya R, Lalloz MR, Bellingham AJ, Layton DM. Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. Hum Mutat. 1997;10(4):290–294. [PubMed]
  • Toren A, Brok-Simoni F, Ben-Bassat I, Holtzman F, Mandel M, Neumann Y, Ramot B, Rechavi G, Kende G. Congenital haemolytic anaemia associated with adenylate kinase deficiency. Br J Haematol. 1994 Jun;87(2):376–380. [PubMed]
  • Beutler E. G6PD: population genetics and clinical manifestations. Blood Rev. 1996 Mar;10(1):45–52. [PubMed]
  • Chang JG, Liu TC. Glucose-6-phosphate dehydrogenase deficiency. Crit Rev Oncol Hematol. 1995 Aug;20(1-2):1–7. [PubMed]
  • Mason PJ. New insights into G6PD deficiency. Br J Haematol. 1996 Sep;94(4):585–591. [PubMed]
  • Mason PJ, Sonati MF, MacDonald D, Lanza C, Busutil D, Town M, Corcoran CM, Kaeda JS, Stevens DJ, al-Ismail S, et al. New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. Blood. 1995 Mar 1;85(5):1377–1380. [PubMed]
  • Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S. Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. Blood. 1996 Mar 1;87(5):2071–2074. [PubMed]
Articles from Journal of Clinical Pathology are provided here courtesy of
BMJ Group

PubMed articles by these authors