Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation

Turkish Journal of Pediatrics

Volumn 52, Issue 1, 2010, Pages 73-77

  Uslu, Nuray ^a   Gürakan, Figen ^a   Yüce, Aysel ^a   Demir, Hülya ^a   Tarugi, Patrizia ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Abetalipoproteinemia; Infancy; MTP gene

Indexed keywords

ALANINE AMINOTRANSFERASE; ALPHA TOCOPHEROL; APOLIPOPROTEIN B; ASPARTATE AMINOTRANSFERASE; CAROTENE; CHOLESTEROL; ESSENTIAL FATTY ACID; FAT SOLUBLE VITAMIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MESSENGER RNA; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; NUCLEOTIDE; RETINOL; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; VERY LOW DENSITY LIPOPROTEIN CHOLESTEROL; VITAMIN;

ABDOMINAL DISTENSION; ABETALIPOPROTEINEMIA; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CHILD DEATH; CHOLESTEROL BLOOD LEVEL; CHRONIC DIARRHEA; CONSANGUINEOUS MARRIAGE; DEHYDRATION; DISEASE SEVERITY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; INGUINAL HERNIA; LABORATORY TEST; LIPOPROTEIN BLOOD LEVEL; LOW FAT DIET; MALE; MALNUTRITION; NUCLEOTIDE SEQUENCE; PARENT; PHYSICAL EXAMINATION; RNA TRANSLATION; SIBLING; STOP CODON; THRUSH; TREATMENT FAILURE; TURKEY (REPUBLIC); VITAMIN BLOOD LEVEL; VOMITING; WEIGHT GAIN;

ABETALIPOPROTEINEMIA; CARRIER PROTEINS; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; INFANT; MALE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 77950429084     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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