Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency

Journal of Inherited Metabolic Disease

Volumn 27, Issue 5, 2004, Pages 671-678

  Olsen, Rikke K J ^a   Pourfarzam, M ^b   Morris, A A M ^c   Dias, R C ^d   Knudsen, I ^a   Andresen, B S ^a,e   Gregersen, N ^a   Olpin, S E ^f  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITAL OF NORTH TEES   (United Kingdom)

^e AARHUS UNIVERSITY   (Denmark)

^f SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CARNITINE; ELECTRON TRANSFER FLAVOPROTEIN (UBIQUINONE); FLAVINE ADENINE NUCLEOTIDE; GLYCINE; RIBOFLAVIN; UBIQUINONE DERIVATIVE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ARTIFICIAL VENTILATION; BREATHING MUSCLE; CASE REPORT; COMORBIDITY; DRUG RESPONSE; ENZYME DEFICIENCY; FEMALE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; LIPIDOSIS; MOLECULAR GENETICS; MULTIPLE ACYL COA DEHYDROGENATION DEFICIENCY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NUCLEOTIDE SEQUENCE; RESPIRATORY FAILURE;

ACYL-COA DEHYDROGENASES; ADOLESCENT; AGE OF ONSET; BASE SEQUENCE; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ELECTRON TRANSPORT COMPLEX I; ELECTRON-TRANSFERRING FLAVOPROTEINS; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; IRON-SULFUR PROTEINS; LIPID METABOLISM; LIPID METABOLISM, INBORN ERRORS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PHENOTYPE; RESPIRATION, ARTIFICIAL;

EID: 4644354417     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000042986.10291.e9     Document Type: Article

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