Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1812, Issue 5, 2011, Pages 619-624

  Fukao, Toshiyuki ^a   Sass, Jörn Oliver ^b   Kursula, Petri ^c,d   Thimm, Eva ^e   Wendel, Udo ^e   Ficicioglu, Can ^f   Monastiri, Kamel ^g   Guffon, Nathalie ^h   Barić, Ivo ⁱ   Zabot, Marie therese ^h   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF OULU   (Finland)

^d DESY   (Germany)

^e UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g Centre de Maternité et de Neónatologie de Monastir   (Tunisia)

^h HOSPICES CIVILS DE LYON   (France)

ⁱ UNIVERSITY OF ZAGREB   (Croatia)

Author keywords

Ketoacidosis; Mutation; OXCT; SCOT; Structure function analysis; Succinyl CoA:3 ketoacid CoA transferase

Indexed keywords

3 OXOACID COENZYME A TRANSFERASE; COMPLEMENTARY DNA;

3 OXOACID COENZYME A TRANSFERASE DEFICIENCY; ALLELE; ARTICLE; BLOOD GAS; CATALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME CONFORMATION; FEMALE; GENE EXPRESSION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IMMUNOBLOTTING; INBORN ERROR OF METABOLISM; INFANT; KETOACIDOSIS; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; TEMPERATURE SENSITIVE MUTANT; WILD TYPE;

ACIDOSIS; CHILD, PRESCHOOL; COENZYME A-TRANSFERASES; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; KETOSIS; MALE; MUTANT PROTEINS; MUTATION, MISSENSE; PHENOTYPE; PROTEIN CONFORMATION;

EID: 79952697444     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2011.01.015     Document Type: Article

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