Literature summary for 2.2.1.2 extracted from

Wamelink, M.M.; Struys, E.A.; Salomons, G.S.; Fowler, D.; Jakobs, C.; Clayton, P.T.
Transaldolase deficiency in a two-year-old boy with cirrhosis (2008), Mol. Genet. Metab., 94, 255-258.

Search for more literature for 2.2.1.2

Application

Application	Comment	Organism
medicine	clinical presentation and laboratory findings of a new patient with TALDO deficiency: a two-year-old Arabic boy presented with neonatal onset of anemia and thrombocytopenia, tubulopathy, and rickets and is subsequently found to have cirrhosis and deafness	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
TALDO	-	Homo sapiens
transaldolase	-	Homo sapiens

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Release 2023.1 (January 2023)