Published in Gastroenterology Week, August 25th, 2008
"We report the clinical presentation and laboratory findings of a new patient with TALDO deficiency. The two-year-old Arabic boy presented with neonatal onset of anemia and thrombocytopenia, tubulopathy, and rickets and was subsequently found to have cirrhosis and deafness," wrote M.M. Wamelink and colleagues.
The researchers concluded: "A comparison with other TALDO deficient patients is given."
Wamelink and colleagues published their study in Molecular Genetics and...
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