Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis;Déficit multiple en acyl-CoA déshydrogénases : une cause traitable de lipidose musculaire d'origine génétique

Revue Neurologique

Volumn 166, Issue 3, 2010, Pages 289-294

  Maillart, E ^a   Acquaviva Bourdain, C ^b   Rigal, O ^c   Brivet, M ^d   Jardel, C ^b,e   Lombes A ^b   Eymard, B ^a   Vianey Saban, C ^b   Laforet P ^a  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b INSERM   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d BICÊTRE HOSPITAL   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Metabolic myopathy; Multiple acyl CoA dehydrogenase deficiency; Muscular lipidosis

Indexed keywords

ACYLCARNITINE; CARNITINE; ELECTRON TRANSFERRING FLAVOPROTEIN; ELECTRON TRANSFERRING FLAVOPROTEIN UBIQUINONE OXYDOREDUCTASE; RIBOFLAVIN; UNCLASSIFIED DRUG;

ACUTE BRAIN DISEASE; ADULT; ARTICLE; BRAIN DISEASE; CASE REPORT; DISEASE COURSE; ETFDH GENE; FATTY ACID OXIDATION; FEMALE; GENETIC DISORDER; GENOTYPE; HUMAN; HUMAN TISSUE; LIPIDOSIS; MALE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; RARE DISEASE; TANDEM MASS SPECTROMETRY; VOMITING;

ACYL-COA DEHYDROGENASES; ADULT; BIOPSY; BRAIN DISEASES, METABOLIC; CARNITINE; COLORING AGENTS; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT; ELECTRON-TRANSFERRING FLAVOPROTEINS; FEMALE; HUMANS; LIPID METABOLISM, INBORN ERRORS; LIPIDOSES; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLE, SKELETAL; RIBOFLAVIN; TANDEM MASS SPECTROMETRY; YOUNG ADULT;

EID: 77949261621     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2009.05.009     Document Type: Article

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