Abstract Background Transaldolase (TALDO) deficiency (OMIM# 606003) is a rare
autosomal recessive multi-systemic disorder of carbohydrate metabolism. It has a vast …

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 …

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

Transaldolase deficiency is a rare inborn autosomal recessive disorder caused by biallelic
mutations in the TALDO1 gene. It is characterized by intrauterine growth restriction …

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 (TALDO) deficiency is a rare autosomal recessive disorder caused by
variants in the TALDO1 gene that commonly results in multisystem dysfunction. Herein, we …

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 …

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

Transaldolase deficiency is a newly recognized metabolic disorder. It is an autosomal
recessive genetic disease (OMIM# 606003). The effects of the defect in the TALDO gene are …