The pentose phosphate pathway (PPP) is a route that can work in parallel to glycolysis in
glucose degradation in most living cells. It has a unidirectional oxidative part with glucose-6 …

Mutations in the transaldolase 1 (TALDO1) gene have been described in a limited number of
cases. Several organs can be affected and clinical manifestations are variable, but often …

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

Eyaid's syndrome or Transaldolase Deficiency (TD)(OMIM 606003) is a rare autosomal
recessive inborn error of metabolism. In this report, we describe the case of an eight-year …

Transaldolase deficiency is a rare autosomal recessive inborn error of carbohydrate
metabolism caused by pathogenic/likely pathogenic biallelic mutations in the TALDO1 gene …

The pentose phosphate pathway (PPP) is a route that can work in parallel to glycolysis in
glucose degradation in most living cells. It has a unidirectional oxidative part with glucose-6 …

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