Glutaric aciduria type 2, late onset type in thai siblings with myopathy

Pediatric Neurology

Volumn 43, Issue 4, 2010, Pages 279-282

  Wasant, Pornswan ^a   Kuptanon, Chulaluck ^a   Vattanavicharn, Nithiwat ^a   Liammongkolkul, Somporn ^a   Ratanarak, Pisanu ^a   Sangruchi, Tumtip ^b   Yamaguchi, Seiji ^c  

^a MAHIDOL UNIVERSITY   (Thailand)

^b MAHIDOL UNIVERSITY   (Thailand)

^c SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; CREATINE KINASE; ELECTRON TRANSFERRING FLAVOPROTEIN; GLYCINE; LACTATE DEHYDROGENASE; METHYLPREDNISOLONE; PREDNISOLONE; RIBOFLAVIN;

ALLELE; ARTICLE; CASE REPORT; CHILD; CORTICOSTEROID THERAPY; CREATINE KINASE BLOOD LEVEL; ECHOCARDIOGRAPHY; ELECTROMYOGRAPHY; FOLLOW UP; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; LACTATE DEHYDROGENASE BLOOD LEVEL; LIPID STORAGE; LOW FAT DIET; MALE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MYOPATHY; NERVE CONDUCTION; PHYSICAL EXAMINATION; POLYMYOSITIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCHOOL CHILD; SIBLING; THAILAND;

ALLELES; BLOTTING, WESTERN; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRON-TRANSFERRING FLAVOPROTEINS; HUMANS; IRON-SULFUR PROTEINS; MALE; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUSCLE WEAKNESS; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS;

EID: 77956577321     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.05.018     Document Type: Article

References (13)

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