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Transaldolase Deficiency

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

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… Expand
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2016
2016
Transaldolase (TALDO) deficiency has various clinical manifestations including liver dysfunction, hepatosplenomegaly, anemia… Expand
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2014
2014
AbstractTransaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism characterized clinically by dysmorphic… Expand
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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… Expand
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2014
2014
Transaldolase deficiency is a newly recognized metabolic disorder. It is an autosomal recessive genetic disease (OMIM #606003… Expand
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2012
2012
BACKGROUND Transaldolase deficiency (OMIM 606003) is a multisystem disorder first described in 2001. Transaldolase is an enzyme… Expand
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2010
2010
BACKGROUND Sedoheptulose, arabitol, ribitol, and erythritol have been identified as key diagnostic metabolites in TALDO… Expand
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2007
2007
SummaryTransaldolase deficiency, a recently discovered disorder of carbohydrate metabolism with multisystem involvement, has been… Expand
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Review
2007
Review
2007
The signaling networks that mediate cell growth, differentiation, and survival are dependent on complex metabolic and redox… Expand
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2006
2006
Transaldolase (TAL) is a key enzyme of the pentose phosphate pathway (PPP). TAL deficiency is a newly recognized cause of liver… Expand
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