ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

Author:

Peters Heidi,Buck Nicole,Wanders Ronald,Ruiter Jos,Waterham Hans,Koster Janet,Yaplito-Lee Joy,Ferdinandusse Sacha,Pitt James

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Reference12 articles.

1. beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations;Brown;Pediatrics,1982

2. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase;Ferdinandusse;Orphanet J Rare Dis,2013

3. Leigh and Leigh-like syndrome in children and adults;Finsterer;Pediatr Neurol,2008

4. Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues;Fong;J Biol Chem,1977

5. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome;Gerards;Brain,2013

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