Transaldolase deficiency in two new patients with a relative mild phenotype.

Tylki-Szymańska, Anna

Transaldolase deficiency in two new patients with a relative mild phenotype. [electronic resource] - Molecular genetics and metabolism May 2009 - 15-7 p. digital

Publication Type: Case Reports; Journal Article

1096-7206

10.1016/j.ymgme.2009.01.016 doi


Carbohydrates--urine
Case-Control Studies
Child, Preschool
Humans
Infant
Infant, Newborn
Male
Phenotype
Polymers--analysis
Transaldolase--deficiency