Succinyl-coa ligase deficiency: A mitochondrial hepatoencephalomyopathy

Pediatric Research

Volumn 68, Issue 2, 2010, Pages 159-164

  Van Hove, Johan L K ^a   Saenz, Margarita S ^a   Thomas, Janet A ^a   Gallagher, Renata C ^a   Lovell, Mark A ^b   Fenton, Laura Z ^c   Shanske, Sarah ^d   Myers, Sommer M ^a   Wanders, Ronald J A ^e   Ruiter, Jos ^e   Turkenburg, Marjolein ^e   Waterham, Hans R ^e  

^a Department of Pediatrics   (United States)

^b UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL COLORADO   (United States)

^d Columbia College of Physicians and Surgeons ^*  (United States)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOGLUTARIC ACID; ACYLCARNITINE; ALANINE; AMINO ACID DERIVATIVE; AMINOTRANSFERASE; CARBOXYLIC ACID; CARNITINE; DICARBOXYLCARNITINE; FUMARIC ACID; GLUTAMIC ACID; GLUTAMINE; KETONE; LACTIC ACID; MALIC ACID; METHYLCITRIC ACID; METHYLMALONIC ACID; MITOCHONDRIAL DNA; PROLINE; PROPIONYLCARNITINE; PYRUVIC ACID; SUCCINYLCARNITINE; UNCLASSIFIED DRUG; SUCCINYL COENZYME A SYNTHETASE;

ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; GENE MUTATION; HUMAN; LABORATORY TEST; LACTIC ACIDOSIS; LEIGH DISEASE; LIVER FAILURE; MITOCHONDRIAL HEPATOENCEPHALOMYOPATHY; MUSCLE WEAKNESS; MYOPATHY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RECURRENT DISEASE; RESPIRATORY FAILURE; SUCCINYL COENZYME A LIGASE DEFICIENCY; URINALYSIS; AMINO ACID SEQUENCE; BRAIN; CASE REPORT; DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYMOLOGY; FATALITY; FEMALE; GENETICS; INFANT; LIVER DISEASE; METABOLIC ENCEPHALOPATHY; METABOLISM; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN; BRAIN DISEASES, METABOLIC; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; LIVER DISEASES; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUTATION; SUCCINATE-COA LIGASES;

EID: 77955151559     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3181e5c3a4     Document Type: Article

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