Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

Clinica Chimica Acta

Volumn 401, Issue 1-2, 2009, Pages 51-56

  Najah, Mohamed ^a   Di Leo, Enza ^b   Awatef, Jelassi ^a   Magnolo, Lucia ^b   Imene, Jgurim ^a   Pinotti, Elisa ^b   Bahri, Mahjoub ^c   Barsaoui, Sihem ^d   Brini, Ines ^d   Fekih, Moncef ^e   Slimane, Mohamed Naceur ^a   Tarugi, Patrizia ^b  

^a UNIVERSITY OF MONASTIR   (Tunisia)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c Tahar Sfar Hospital of Mahdia   (Tunisia)

^d CHILDREN S HOSPITAL   (Tunisia)

^e LA RABTA HOSPITAL   (Tunisia)

Author keywords

Abetalipoproteinemia; Homozygous familial hypobetalipoproteinemia; MTP and APOB gene mutations; Tunisian patients

Indexed keywords

AMINO ACID; APOLIPOPROTEIN B; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MESSENGER RNA; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN;

ABETALIPOPROTEINEMIA; ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; EYE EXAMINATION; FAMILIAL HYPOBETALIPOPROTEINEMIA; FAMILY HISTORY; FEMALE; GENE DELETION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INTESTINE BIOPSY; LABORATORY TEST; LIPID BLOOD LEVEL; LIPOPROTEIN BLOOD LEVEL; MALABSORPTION; MALE; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; TUNISIA;

ABETALIPOPROTEINEMIA; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; APOLIPOPROTEINS B; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENOTYPE; HUMANS; HYPOBETALIPOPROTEINEMIA, FAMILIAL, APOLIPOPROTEIN B; INFANT; INTRONS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; TUNISIA; YOUNG ADULT;

EID: 58549115456     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2008.11.012     Document Type: Article

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