Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

Neuromuscular Disorders

Volumn 19, Issue 5, 2009, Pages 324-329

  Laforêt, Pascal ^a   Acquaviva Bourdain, Cécile ^b   Rigal, Odile ^c   Brivet, Michèle ^d   Penisson Besnier, Isabelle ^e   Chabrol, Brigitte ^f   Chaigne, Denys ^g   Boespflug Tanguy, Odile ^h   Laroche, Cécile ⁱ   Bedat Millet, Anne Laure ^j   Behin, Anthony ^a   Delevaux, Isabelle ^h   Lombès, Anne ^b   Andresen, Brage S ^k   Eymard, Bruno ^a   Vianey Saban, Christine ^b  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b INSERM   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d BICÊTRE HOSPITAL   (France)

^e ANGERS UNIVERSITY HOSPITAL   (France)

^f TIMONE HOSPITAL   (France)

^g Clinique Sainte Odile   (France)

^h UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

ⁱ LIMOGES UNIVERSITY HOSPITAL   (France)

^j HÔPITAL CHARLES NICOLLE   (France)

^k AARHUS UNIVERSITY   (Denmark)

more..

Author keywords

Fatty acid oxidation; Metabolic myopathy; Muscle lipidosis; Very Long Chain Acyl Coenzyme A dehydrogenase

Indexed keywords

ACYLCARNITINE; CARNITINE DERIVATIVE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; TETRADECENOYLCARNITINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COLD; CONTROLLED STUDY; DISEASE COURSE; ENZYME DEFICIENCY; EXERCISE; FAMILY HISTORY; FEMALE; FEVER; FOLLOW UP; GENE MUTATION; GENOTYPE; HUMAN; HUMAN TISSUE; LIPIDOSIS; LYMPHOCYTE; MALE; MEDICAL ASSESSMENT; MUSCLE BIOPSY; PRIORITY JOURNAL; RHABDOMYOLYSIS; SCHOOL CHILD; SKIN FIBROBLAST; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; ADOLESCENT; ADULT; BIOLOGICAL MARKERS; CARNITINE; CELLS, CULTURED; CHILD; DNA MUTATIONAL ANALYSIS; EXERCISE TOLERANCE; FEMALE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; METABOLISM, INBORN ERRORS; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUSCLE WEAKNESS; MUSCULAR DISEASES; MUTATION; RHABDOMYOLYSIS; YOUNG ADULT;

EID: 67349091111     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.02.007     Document Type: Article

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