Transaldolase Deficiency

Known as: EYAID SYNDROME, TALDO DEFICIENCY 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2003-2018
012320032018

Papers overview

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2017
2017
Transaldolase deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway that presents clinically with… (More)
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2017
2017
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high… (More)
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2016
2016
Transaldolase (TALDO) deficiency has various clinical manifestations including liver dysfunction, hepatosplenomegaly, anemia… (More)
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2014
2014
We evaluated a family with a 16-month-old boy with cirrhosis and hepatocellular carcinoma and his 30-month-old brother with… (More)
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2014
2014
Transaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism characterized clinically by dysmorphic features… (More)
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2012
2012
BACKGROUND Transaldolase deficiency (OMIM 606003) is a multisystem disorder first described in 2001. Transaldolase is an enzyme… (More)
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2010
2010
BACKGROUND Sedoheptulose, arabitol, ribitol, and erythritol have been identified as key diagnostic metabolites in TALDO… (More)
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2007
2007
Transaldolase deficiency, a recently discovered disorder of carbohydrate metabolism with multisystem involvement, has been… (More)
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2005
2005
This paper describes the second patient found to be affected with a deficiency of transaldolase (TALDO1; EC 2.2.1.2). Clinically… (More)
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2003
2003
BACKGROUND Recently, several patients with abnormal polyol profiles in body fluids have been reported, but the origins of these… (More)
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