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Eating behaviour in contrasting adiposity phenotypes: Monogenic obesity and congenital generalized lipodystrophy
(2021)
Most known types of nonsyndromic monogenic obesity are caused by rare mutations in genes of the leptin-melanocortin pathway controlling appetite and adiposity. In contrast, congenital generalized lipodystrophy represents ...
Lipodistrofias primarias: presentación clínica y diagnóstico
(2019)
Lipodystrophies are a heterogeneous group of syndromes defined by a severe reduction of the adipose tissue. These can be congenital or acquired. Anatomically, they can be partial or generalized. The etiology of several ...
Lipodistrofias relacionadas a variantes patogênicas do gene CAV1: uma análise fenotípica e genotípica de três tipos distintos
(Universidade Federal do Rio Grande do NorteBrasilUFRNBiomedicinaCentro de Biociências, 2023)
Análise do ciclo sono e vigília, qualidade do sono e sonolência diurna em pessoas com a lipodistrofia congênita generalizada do nordeste do Brasil
(Universidade Federal do Rio Grande do NorteBrasilUFRNFisioterapiaFisioterapia, 2018-12-03)
Berardinelli-Seip Syndrome (BSS) or Generalized Congenital Lipodystrophy of the Berardinelli-Seip type is a rare autosomal recessive disease whose main characteristic is the reduction of subcutaneous adipose tissue. The ...
Intervenção dietoterápica em portadores de lipodistrofia generalizada congênita do Rio Grande do Norte
(Universidade Federal do Rio Grande do NorteBRUFRNPrograma de Pós-Graduação em Ciências da SaúdeCiências da Saúde, 2008-10-20)
Congenital generalized lipodystrophy is a rare genetic disease with autosomal recessive inheritance characterized by the generalized absence of subcutaneous adipose tissue and insulin resistance. The aim of our study was ...
Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. A clinical, genetic and in silico study
(2014)
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme reduction of white adipose tissue (WAT) mass. CGL type 1 is the most frequent form and is caused by mutations in ...
Conhecimento, atitudes e práticas dos profissionais da enfermagem acerca da síndrome de Berardinelli-Seip no Hospital Universitário Onofre Lopes
(Universidade Federal do Rio Grande do NorteBrasilUFRNEnfermagem, 2018-09-26)
Berardinelli-Seip Syndrome (BSCL), also known as Generalized Congenital Lipodystrophy (LGG), is a rare autosomal recessive genetic disease of low prevalence with 1: 10,000,000 people. LGC patients have a very characteristic ...
Conhecimento, atitudes e práticas dos profissionais da enfermagem acerca da Síndrome de Berardinelli-Seip no Hospital Regional Mariano Coelho
(Universidade Federal do Rio Grande do NorteBrasilUFRNEnfermagem, 2018-09-26)
Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare disease, the genetic disorder is transmitted by an autosomal recessive process. Its worldwide prevalence 1 in 10,000,000 people. Linked to a genetic inheritance ...
Conhecimentos dos profissionais de enfermagem acerca da Síndrome de Berardinelli-Seip em Unidades Básicas de Saúde do Seridó – RNKnowledge about Berardinelli – Seip Syndrome (BSCL) in Health Centers – RN
(Universidade Federal do Rio Grande do NorteBrasilUFRNEnfermagem, 2017)