Multiple Acyl-CoA-dehydrogenase deficiency (MADD) - A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH

Journal of the Neurological Sciences

Volumn 307, Issue 1-2, 2011, Pages 166-167

  Lammer A B ^a   Rolinski, B ^b,c   Ahting, U ^b   Heuss, D ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b Institute of Clinical Chemistry and Immunology   (Germany)

^c Elblab GmbH Zentrum für LaborMedizin   (Germany)

Author keywords

ETFDH mutations; Late onset glutaric aciduria type II; Multiple Acyl CoA dehydrogenase deficiency

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BUTYRYL COENZYME A DEHYDROGENASE; CARNITINE; CREATINE KINASE; ELECTRON TRANSFERRING FLAVOPROTEIN; RIBOFLAVIN; UBIDECARENONE;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAPHY; EXON; FLEXOR MUSCLE; GENETIC ASSOCIATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPERTRANSAMINASEMIA; MALE; MISSENSE MUTATION; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MYALGIA; MYOPATHY; NUCLEOTIDE SEQUENCE; PARESIS; PRIORITY JOURNAL; SIBLING; TANDEM MASS SPECTROMETRY; TREATMENT RESPONSE;

ADULT; ELECTRON TRANSPORT; ELECTRON-TRANSFERRING FLAVOPROTEINS; HETEROZYGOTE DETECTION; HUMANS; IRON-SULFUR PROTEINS; LIPID METABOLISM DISORDERS; MALE; MITOCHONDRIAL DISEASES; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUTATION, MISSENSE; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS;

EID: 79959859569     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.05.001     Document Type: Article

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