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Details on Person A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

Class:IdLiteratureReference:5659986
_displayNameA newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
_timestamp2015-01-02 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
journalJ. Inherit. Metab. Dis.
pages169-79
pubMedIdentifier15877206
titleA newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
volume28
year2005
(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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No pathways have been reviewed or authored by A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency (5659986)