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

AuthorsS Balasubramaniam, Mirjam M C Wamelink, Lock-Hock Ngu, Arni Talib, Gajja S Salomons, Cornelis Jakobs, Wee-Teik Keng
JournalJournal of pediatric gastroenterology and nutrition (J Pediatr Gastroenterol Nutr) Vol. 52 Issue 1 Pg. 113-6 (Jan 2011) ISSN: 1536-4801 [Electronic] United States
PMID21119539 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Monosaccharides
  • Polymers
  • polyol
  • Transaldolase
Topics
  • Genes
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Liver Failure, Acute (diagnosis, etiology, metabolism)
  • Male
  • Metabolism, Inborn Errors (complications, diagnosis, genetics)
  • Monosaccharides (urine)
  • Mutation, Missense
  • Pentose Phosphate Pathway (genetics)
  • Polymers (metabolism)
  • Transaldolase (deficiency, genetics, metabolism)

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