Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 427-431

  Baerlocher, K E ^a,f   Steinmann, B ^b   Aguzzi, A ^c   Krahenbuhl S ^c   Roe, C R ^d   Vianey Saban, C ^e  

^a Cantonal Childrens Hospital   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^e HÔPITAL DEBROUSSE   (France)

^f Ostschweizer Kinderspital   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CARBOXYLIC ACID; CARNITINE; OXIDOREDUCTASE; SHORT CHAIN FATTY ACID;

ACIDURIA; ADOLESCENT; CASE REPORT; CONFERENCE PAPER; ENZYME DEFICIENCY; FATTY ACID BLOOD LEVEL; FEMALE; FIBROBLAST; HUMAN; MUSCLE ATROPHY; SCOLIOSIS;

ACYL-COA DEHYDROGENASES; ADOLESCENT; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GLUCOSE TOLERANCE TEST; GROWTH DISORDERS; HUMANS; MITOCHONDRIA, MUSCLE; MUSCLE HYPOTONIA; MUSCLE, SKELETAL; MUSCULAR DISEASES; RESPIRATORY TRACT DISEASES; SCOLIOSIS;

EID: 0030748774     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005319120751     Document Type: Conference Paper

References (13)

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