Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia

Annals of Neurology

Volumn 58, Issue 1, 2005, Pages 160-163

  Homer, Vivienne M ^a   George, Peter M ^a   Du Toit, Stephen ^b   Davidson, James S ^c   Wilson, Callum J ^d,e  

^a CANTERBURY HEALTH LABORATORIES   (New Zealand)

^b Diagnostic Medlab   (New Zealand)

^c AUCKLAND CITY HOSPITAL   (New Zealand)

^d STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^e National Metabolic Service   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; APOLIPOPROTEIN A1; APOLIPOPROTEIN B; APOLIPOPROTEIN B100; APOLIPOPROTEIN B48; BETA CAROTENE; CHOLESTEROL; CHYLOMICRON; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; RETINOL; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN; VITAMIN D;

ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; ATAXIA; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DNA SEQUENCE; ENDOCYTOSIS; GENE MUTATION; GRAND MAL SEIZURE; HETEROZYGOTE; HUMAN; HYPOBETALIPOPROTEINEMIA; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NORMOTRIGLYCERIDEMIC HYPOBETALIPOPROTEINEMIA; OBESITY; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; TRIACYLGLYCEROL BLOOD LEVEL; VISUAL IMPAIRMENT; VITAMIN BLOOD LEVEL; WESTERN BLOTTING;

APOLIPOPROTEINS B; ATAXIA; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; CHOLESTEROL, LDL; CHYLOMICRONS; HUMANS; HYPOBETALIPOPROTEINEMIAS; INFANT; MALE; MENTAL RETARDATION; MUTATION; OBESITY; POLYMERASE CHAIN REACTION; TRIGLYCERIDES; VITAMIN E;

EID: 21844435995     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20531     Document Type: Article

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