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Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure

  • Published:2011-01 Issue:1 Volume:52 Page:113-116
  • ISSN:0277-2116
  • Container-title:Journal of Pediatric Gastroenterology & Nutrition
  • language:en
  • Short-container-title:

Author:

Balasubramaniam S,Wamelink Mirjam MC,Ngu Lock-Hock,Talib Arni,Salomons Gajja S,Jakobs Cornelis,Keng Wee-Teik

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Gastroenterology,Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway;Verhoeven;Am J Hum Genet,2001

2. A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency;Verhoeven;J Inherit Metab Dis,2005

3. Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease;Valayannopoulos;J Pediatr,2006

4. Transaldolase deficiency in a two-year-old boy with cirrhosis;Wamelink;Mol Genet Met,2008

5. A rare cause of hepatosplenomegaly-transaldolase deficiency;Fung;J Inherit Metab Dis,2007

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