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Details on Person A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
| Class:Id | LiteratureReference:5659986 |
| _displayName | A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency |
| _timestamp | 2015-01-02 21:55:06 |
| author | [Person:71327] Verhoeven, Nanda M [Person:5659983] Wallot, M [Person:71328] Huck, Jojanneke H J [Person:5659971] Dirsch, O [Person:5659995] Ballauf, A [Person:5659997] Neudorf, U [Person:70948] Salomons, Gajja S [Person:71332] van der Knaap, Marjo S [Person:5617070] Voit, T [Person:70816] Jakobs, Cornelis |
| created | [InstanceEdit:5659984] D'Eustachio, Peter, 2015-01-02 |
| journal | J. Inherit. Metab. Dis. |
| pages | 169-79 |
| pubMedIdentifier | 15877206 |
| title | A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency |
| volume | 28 |
| year | 2005 |
| (literatureReference) | [FailedReaction:5659989] Defective TALDO1 does not transform SH7P, GA3P to Fru(6)P, E4P [Homo sapiens] [FailedReaction:5659998] Defective TALDO1 does not transform Fru(6)P, E4P to SH7P, GA3P [Homo sapiens] [EntityWithAccessionedSequence:5659979] TALDO1 R192H [cytosol] [Homo sapiens] [DefinedSet:5660002] TALDO1 mutant dimers [cytosol] [Homo sapiens] |
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