Abstract Background Transaldolase deficiency (TALDO‐D) is a rare autosomal recessive
inborn error of the pentose phosphate pathway. Since its first description in 2001, several …

Purpose Transaldolase deficiency is a recently described inborn error of pentose phosphate
pathway. We conducted this study to further delineate the associated phenotype. Methods …

Transaldolase (TALDO) deficiency is a recently described inborn error of metabolism of the
pentose phosphate pathway that so far has been diagnosed in only eight patients. In this …

Transaldolase (TALDO) deficiency is a rare inborn error of the pentose phosphate pathway.
We report the clinical presentation and laboratory findings of a new patient with TALDO …

Transaldolase (TALDO) deficiency has various clinical manifestations including liver
dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features. We …

Abstract Introduction: Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn
autosomal recessive error of the pentose phosphate pathway that, to date, has been …

Transaldolase (TALDO) deficiency is a rare metabolic disease in the pentose phosphate
pathway, which manifests as a severe, early-onset multisystem disease. The body fluids of …

This paper describes the second patient found to be affected with a deficiency of
transaldolase (TALDO1; EC 2.2. 1.2). Clinically, this patient presented in the neonatal period …

Transaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism
characterized clinically by dysmorphic features, cutis laxa, hepatosplenomegaly, hepatic …

Transaldolase (TALDO) deficiency (OMIM# 606003), a recently recognized new inborn error
of the pentose phosphate pathway (PPP), has been reported to date in only 10 patients from …