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

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Bibliographic Details
Published inJournal 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
LanguageEnglish
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
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Bibliography:The authors report no conflicts of interest.
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:0277-2116
1536-4801
DOI:10.1097/MPG.0b013e3181f50388