TALDO1 mutant dimers [cytosol]

Stable Identifier
R-HSA-5660002
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
18331807 Transaldolase deficiency in a two-year-old boy with cirrhosis

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

Mol. Genet. Metab. 2008
24097415 Novel association of early onset hepatocellular carcinoma with transaldolase deficiency

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

JIMD Rep 2014
15877206 A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

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

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