Associated Papers
Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report.
Cecchetti C et al.
Frontiers in Endocrinology, 2023
Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.
Costa S et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Ceccarini G et al.
Frontiers in Endocrinology, 2020
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF et al.
Frontiers in Physiology, 2018
30319454 (PubMed )
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Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.
Cortés VA et al.
Plos One, 2014
[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].
Barra CB et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2011
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.
Miranda DM et al.
Clinical Endocrinology, 2009
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy.
Haque W et al.
Biochemical and Biophysical Research Communications, 2005
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
Fu M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
Agarwal AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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