Article
Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ single-nucleotide polymorphisms with lipid and glycemic profiles of patients with Berardinelli-Seip syndrome.
Annals of nutrition & metabolism - 1 Jan 2014
Baracho Maria F P, Nunes Adriana B, Hirata Mario H, Hirata Rosario D C, Fajardo Christina M, Santos Maria G N, Wajchenberg Bernardo L, De Marco Luiz A, Brandão-Neto José
Abstract excerpt
BACKGROUND/AIMS: Berardinelli-Seip syndrome (BSS) is a recessive autosomal genetic disorder characterized by the near loss of adipose tissue with disturbance in lipid metabolism. METHODS: Biochemical and hormonal parameters and Pro12Ala, Pvull, Avall, Sstl and ADIPOQ polymorphisms in 22 patients with BSS were analyzed and examined for a possible association with lipid profiles. RESULTS: Parental consanguinity,...
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