Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Brain and Development

Volumn 32, Issue 8, 2010, Pages 669-672

  Ishii, Kiyoko ^a   Komaki, Hirofumi ^a   Ohkuma, Aya ^a   Nishino, Ichizo ^a   Nonaka, Ikuya ^a   Sasaki, Masayuki ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

CNS involvement; Glutaric aciduria type II; Late onset multiple acyl CoA dehydrogenase deficiency; Lipid storage myopathy; Riboflavin responsive

Indexed keywords

CARBOXYLIC ACID; CARNITINE; CREATINE KINASE; ELECTRON TRANSFERRING FLAVOPROTEIN; FAT DROPLET; GLUTARIC ACID; GLYCINE; RIBOFLAVIN; SEROTONIN UPTAKE INHIBITOR;

ACHILLES REFLEX; ADOLESCENT; ARTICLE; CALORIC INTAKE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; CORPUS CALLOSUM; CREATINE KINASE BLOOD LEVEL; DEPRESSION; DIET THERAPY; DISEASE ASSOCIATION; FACIAL EXPRESSION; FEMALE; GAIT DISORDER; GENE MUTATION; GENETIC ANALYSIS; GLUTEUS MAXIMUS MUSCLE; GRIP STRENGTH; HUMAN; JUMPING; LOW FAT DIET; MASS FRAGMENTOGRAPHY; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOPATHY; NAUSEA; NECK; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATELLA TENDON; PECTORALIS MAJOR MUSCLE; RUNNING; TANDEM MASS SPECTROMETRY; TENDON REFLEX; URINALYSIS; URINE LEVEL;

EID: 77955431632     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2009.08.008     Document Type: Article

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