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Volumn 86, Issue 3, 2011, Pages 265-267

Reappraisal of triosephosphate isomerase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

TRIOSEPHOSPHATE ISOMERASE;

EID: 79951597441     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2010.01484.x     Document Type: Letter
Times cited : (4)

References (13)
  • 1
    • 0034431493 scopus 로고    scopus 로고
    • Triosephosphate isomerase deficiency: historical perspectives and molecular aspects
    • Schneider AS. Triosephosphate isomerase deficiency: historical perspectives and molecular aspects. Baillieres Best Pract Res Clin Haematol 2000;13:119-40.
    • (2000) Baillieres Best Pract Res Clin Haematol , vol.13 , pp. 119-40
    • Schneider, A.S.1
  • 2
    • 34250165399 scopus 로고    scopus 로고
    • Triosephosphate isomerase deficiency: facts and doubts
    • Orosz F, Oláh J, Ovádi J. Triosephosphate isomerase deficiency: facts and doubts. IUBMB Life 2006;58:703-15.
    • (2006) IUBMB Life , vol.58 , pp. 703-15
    • Orosz, F.1    Oláh, J.2    Ovádi, J.3
  • 4
    • 0027490726 scopus 로고
    • Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms
    • Hollán S, Fujii H, Hirono A, Hirono K, Karro H, Miwa S, Harsányi V, Gyódi E, Inselt-Kovács M. Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms. Hum Genet 1993;92:486-90.
    • (1993) Hum Genet , vol.92 , pp. 486-90
    • Hollán, S.1    Fujii, H.2    Hirono, A.3    Hirono, K.4    Karro, H.5    Miwa, S.6    Harsányi, V.7    Gyódi, E.8    Inselt-Kovács, M.9
  • 5
    • 0030967792 scopus 로고    scopus 로고
    • 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. Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. Hum Mutat 1997;10:290-4.
    • (1997) Hum Mutat , vol.10 , pp. 290-4
    • Arya, R.1    Lalloz, M.R.2    Bellingham, A.J.3    Layton, D.M.4
  • 6
    • 72149120003 scopus 로고    scopus 로고
    • Triosephosphate isomerase deficiency: new insights into an enigmatic disease
    • Orosz F, Oláh J, Ovádi J. Triosephosphate isomerase deficiency: new insights into an enigmatic disease. Biochim Biophys Acta 2009;1792:1168-74.
    • (2009) Biochim Biophys Acta , vol.1792 , pp. 1168-74
    • Orosz, F.1    Oláh, J.2    Ovádi, J.3
  • 10
    • 55149086824 scopus 로고    scopus 로고
    • Triose phosphate isomerase deficiency is caused by altered dimerization - not catalytic inactivity - of the mutant enzymes
    • Ralser M, Heeren G, Breitenbach M, Lehrach H, Krobitsch S. Triose phosphate isomerase deficiency is caused by altered dimerization - not catalytic inactivity - of the mutant enzymes. PLoS ONE 2006;1:e30.
    • (2006) PLoS ONE , vol.1
    • Ralser, M.1    Heeren, G.2    Breitenbach, M.3    Lehrach, H.4    Krobitsch, S.5
  • 12
    • 0035892130 scopus 로고    scopus 로고
    • Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency
    • Orosz F, Oláh J, Alvarez M, et al. Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. Blood 2001;98:3106-12.
    • (2001) Blood , vol.98 , pp. 3106-12
    • Orosz, F.1    Oláh, J.2    Alvarez, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.