TALDO1 mutant dimers [cytosol]

Stable Identifier
R-HSA-5660002
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
24097415 Novel association of early onset hepatocellular carcinoma with transaldolase deficiency

Wilson, A, Wamelink, MM, Chung, WK, Shen, Y, Salomons, GS, Crouch, EE, Sun, X, Jakobs, C, Leduc, CA, Lefkowitch, J

JIMD Rep 2014
18331807 Transaldolase deficiency in a two-year-old boy with cirrhosis

Wamelink, MM, Fowler, D, Salomons, GS, Clayton, PT, Struys, EA, Jakobs, C

Mol. Genet. Metab. 2008
15877206 A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

Verhoeven, NM, Ballauf, A, Voit, T, Neudorf, U, Wallot, M, van der Knaap, MS, Salomons, GS, Dirsch, O, Jakobs, C, Huck, JHJ

J. Inherit. Metab. Dis. 2005
Participants
members
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
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