Citations for
1TPI1, TPI1D
Triosephosphate isomerase deficiency: facts and doubts.
Orosz F, Oláh J, Ovádi J.
IUBMB Life 58(12):703-15. Review.PMID: 17424909 [PubMed - indexed for MEDLINE] 2006
2TPI1, TPI1D
Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.
Oláh J, Orosz F, Puskás LG, Hackler L Jr, Horányi M, Polgár L, Hollán S, Ovádi J.
Biochem J 392(Pt 3):675-83. 2005
3TPI1, TPI1D
Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes.
Valentin C, Cohen-Solal M, Maquat L, Horanyi M, Inselt-Kovacs M, Hollan S.
C R Acad Sci III 323(3):245-50. 2000
4TPI1, TPI1D
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
Arya R, Lalloz MR, Bellingham AJ, Layton DM.
Hum Mutat 10(4):290-4. 1997
5TPI1, TPI1D
Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.
Watanabe M, et al.
Am J Hum Genet 58 : 308-316. 1996
6TPI1, TPI1D
Triosephosphate isomerase deficiency : repetitive occurence of point mutation in amino acid 104 in multiple apparently unrelated families.
Schneider A, et al.
Am J Hematol 50 : 263-268. 1995
7TPI1, TPI1D
Hereditary hemolytic anemia with triosephosphate isomerase deficiency.
Schneider AS, et al.
N Engl J Med 272 : 229-235. 1965