ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Brain

Volumn 130, Issue 8, 2007, Pages 2045-2054

  Olsen, Rikke K J ^a   Olpin, Simon E ^b   Andresen, Brage S ^a   Miedzybrodzka, Zofia H ^c   Pourfarzam, Morteza ^d   Merinero, Begoña ^e   Frerman, Frank E ^f   Beresford, Michael W ^g   Dean, John C S ^h   Cornelius, Nanna ^a   Andersen, Oluf ⁱ   Oldfors, Anders ⁱ   Holme, Elisabeth ⁱ   Gregersen, Niels ^a   Turnbull, Douglass M ^j   Morris, Andrew A M ^k  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF ABERDEEN   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^f UNIVERSITY OF COLORADO   (United States)

^g ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^h UNIVERSITY OF ABERDEEN   (United Kingdom)

ⁱ SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^j NEWCASTLE UNIVERSITY   (United Kingdom)

^k ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

more..

Author keywords

Electron transfer flavoprotein ubiquinone oxidoreductase; Mitochondrial myopathy; Mutations; Riboflavin responsive multiple acyl CoA dehydrogenation deficiency

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; ELECTRON TRANSFERRING FLAVOPROTEIN; FLAVINE ADENINE NUCLEOTIDE; OXIDOREDUCTASE; RIBOFLAVIN; UBIQUINONE OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME DEFICIENCY; FATTY ACID METABOLISM; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; MALE; MITOCHONDRION; MULTIPLE ACYL COA DEHYDROGENATION DEFICIENCY; PRIORITY JOURNAL;

ACYL-COA DEHYDROGENASE; ADOLESCENT; ADULT; BRAIN DISEASES, METABOLIC; CARNITINE; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT; ELECTRON-TRANSFERRING FLAVOPROTEINS; FATTY ACIDS; FEMALE; HUMANS; IRON-SULFUR PROTEINS; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUTATION; OXIDATION-REDUCTION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; RIBOFLAVIN;

EID: 34547809952     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm135     Document Type: Article

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