Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.

Balasubramaniam, S

Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. [electronic resource] - Journal of pediatric gastroenterology and nutrition Jan 2011 - 113-6 p. digital

Publication Type: Case Reports; Journal Article

1536-4801

10.1097/MPG.0b013e3181f50388 doi


Genes
Heterozygote
Humans
Infant, Newborn
Liver Failure, Acute--diagnosis
Male
Metabolism, Inborn Errors--complications
Monosaccharides--urine
Mutation, Missense
Pentose Phosphate Pathway--genetics
Polymers--metabolism
Transaldolase--deficiency