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

Brain

Volumn 137, Issue 11, 2014, Pages 2903-2908

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

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Biochemistry; Metabolic disease; Neurodegeneration

Indexed keywords

(2 CARBOXYPROPYL)CYSTEINE; 3 HYDROXYISOBUTYRYL CARNITINE; 3 HYDROXYISOBUTYRYL COA HYDROLASE; AMINO ACID; ENOYL COENZYME A HYDRATASE; FATTY ACID; MITOCHONDRIAL ENZYME; UNCLASSIFIED DRUG; VALINE; 3-HYDROXYISOBUTYRYL-COA HYDROLASE; THIOL ESTER HYDROLASE;

AMINO ACID METABOLISM; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; ENZYMURIA; FATALITY; FATTY ACID METABOLISM; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HETEROZYGOTE; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; LEIGH DISEASE; MISSENSE MUTATION; NEUROPATHOLOGY; NEWBORN; PRIORITY JOURNAL; SIBLING; URINALYSIS; DEFICIENCY; GENETICS; INFANT; MALE; METABOLISM; MUTATION;

ENOYL-COA HYDRATASE; FATAL OUTCOME; FEMALE; HUMANS; INFANT; LEIGH DISEASE; MALE; METABOLIC NETWORKS AND PATHWAYS; MUTATION; SIBLINGS; THIOLESTER HYDROLASES; VALINE;

EID: 84922026286     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu216     Document Type: Article

References (12)

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