Precocious endothelial dysfunction in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) evaluated by two different methods
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منابع مشابه
Precocious endothelial dysfunction in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) evaluated by two different methods
Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Clarisse Mourão Melo Ponte, Lia Beatriz de Azevedo Souza Karbage, Manuela Montenegro Dias de Carvalho, Daniel Duarte Gadelha, Synara Cavalcante Lopes, Marivaldo Loyola Aragão, Ana Paula Abreu Martins Sales, Cristiane Bezerra Rocha Liberato, Ana Gardênia Liberato Ponte Farias, Catarina Brasil D’Alva, Francisco Herlânio Costa Carvalho...
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Lia Beatriz de Azevedo Souza Karbage, Ana Paula Dias Rangel Montenegro, Luciana Felipe Férrer Aragão, Izabella Tamira Galdino Farias Vasconcelos, Virgínia Oliveira Fernandes, Annelise Barreto de Carvalho, Clarisse Mourão Melo Ponte, Catarina Brasil D'Alva, Carla Soraya Costa Maia, Synara Cavalcante Lopes, Marivaldo Loyola Aragão, Carla Antoniana Ferreira de Almeida Vieira, Ana Paula Germano Lop...
متن کاملA Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy
Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...
متن کاملGenotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be...
متن کاملPhenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S mutation in 90 patients of 1 large Austrian family and two unrelated German families. Variation in the clinical and electrophysiological phenotype ...
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ژورنال
عنوان ژورنال: Diabetology & Metabolic Syndrome
سال: 2015
ISSN: 1758-5996
DOI: 10.1186/1758-5996-7-s1-a111