Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

Pediatric Research

Volumn 39, Issue 6, 1996, Pages 1059-1066

  Corydon, M J ^a,b   Gregersen, N ^a,b   Lehnert, W ^c   Ribes, A ^d   Rinaldo, P ^e   Kmoch, S ^f   Christensen, E ^g   Kristensen, T J ^a,b   Andresen, B S ^a,b   Bross, P ^a,b   Winter, V ^a,b   Martinez, G ^d   Neve, S ^h   Jensen, T G ^b   Bolund, L ^b   Kolvraa S ^b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c UNIVERSITY OF FREIBURG   (Germany)

^d Sect of Child Adolescent Psychiatry   (Spain)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f CHARLES UNIVERSITY   (Czech Republic)

^g University of Copenhagen   (Denmark)

^h UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; DNA; ENZYME VARIANT; MALONIC ACID DERIVATIVE; MESSENGER RNA; SHORT CHAIN FATTY ACID;

ACIDURIA; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME STABILITY; ESCHERICHIA COLI; EUROPE; FATTY ACID OXIDATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; NONHUMAN; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; UNITED STATES; URINARY EXCRETION;

EID: 9344226779     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199606000-00021     Document Type: Article

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