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Keywords: triosephosphate isomerase
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Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels

Judit Oláh, Ferenc Orosz, László G. Puskás, László Hackler, Jr, Margit Horányi, László Polgár, Susan Hollán, Judit Ovádi
Journal: Biochemical Journal
Biochem J (2005) 392 (3): 675–683.
https://doi.org/10.1042/BJ20050993
Published: 06 December 2005
...Judit Oláh; Ferenc Orosz; László G. Puskás; László Hackler, Jr; Margit Horányi; László Polgár; Susan Hollán; Judit Ovádi Triosephosphate isomerase (TPI) deficiency is a unique glycolytic enzymopathy coupled with neurodegeneration. Two Hungarian compound heterozygote brothers inherited the same TPI...
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Includes: Supplementary data