Fumarase deficiency associated with noninflammatory biliary atresia

J Pediatr Gastroenterol Nutr. 2014 Mar;58(3):e32-4. doi: 10.1097/MPG.0b013e31826f7526.

Authors

R Vara¹, T Grammatikopoulos, C Gallagher, S Agalou, Y Zen, M Davenport, N Hadzic

Affiliation

¹ *Department of Inherited Metabolic Disease, Evelina Children's Hospital †Department of Metabolic Biochemistry, St Thomas' Hospital ‡Department of Paediatric Hepatobiliary Surgery §Paediatric Liver, Nutrition and GI Centre, King's College Hospital ||Institute of Liver Studies, King's College Hospital, London, UK.

PMID: 22922375
DOI: 10.1097/MPG.0b013e31826f7526

No abstract available

Publication types

Case Reports

MeSH terms

Biliary Atresia / complications*
Fumarate Hydratase / deficiency*
Humans
Infant
Male
Metabolism, Inborn Errors / complications*
Muscle Hypotonia / complications*
Psychomotor Disorders / complications*

Substances

Fumarate Hydratase

Supplementary concepts

Fumaric aciduria