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

• Published in: Journal of pediatric gastroenterology and nutrition Vol. 52; no. 1; pp. 113 - 116
• Main Authors: Balasubramaniam, S, Wamelink, Mirjam MC, Ngu, Lock‐Hock, Talib, Arni, Salomons, Gajja S, Jakobs, Cornelis, Keng, Wee‐Teik
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Copyright by ESPGHAN and NASPGHAN 01.01.2011; Lippincott Williams & Wilkins
• Subjects: Biological and medical sciences; Feeding. Feeding behavior; Fundamental and applied biological sciences. Psychology; Gastroenterology. Liver. Pancreas. Abdomen; Genes; Heterozygote; Humans; Infant, Newborn; Liver Failure, Acute - diagnosis; Liver Failure, Acute - etiology; Liver Failure, Acute - metabolism; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Male; Medical sciences; Metabolism, Inborn Errors - complications; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - genetics; Monosaccharides - urine; Mutation, Missense; Other diseases. Semiology; Pentose Phosphate Pathway - genetics; Polymers - metabolism; Transaldolase - deficiency; Transaldolase - genetics; Transaldolase - metabolism; Vertebrates: anatomy and physiology, studies on body, several organs or systems; Human; Liver failure; Deficiency; Gastroenterology; Digestive diseases; Hepatic disease; Metabolic diseases; Mutation; Child