Phenotypic diversity and glucocorticoid sensitivity in patients with familial partial lipodystrophy type 2
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Endocrinology"
DOI: 10.1111/cen.13984
Abstract: Familial partial lipodystrophy type 2 (FPLD2) is characterized by insulin resistance, adipose atrophy of the extremities and central obesity. Due to the resemblance with Cushing's syndrome, we hypothesized a putative role of glucocorticoid in the… read more here.
Keywords: partial lipodystrophy; familial partial; lipodystrophy type; phenotypic diversity ... See more keywords
Case Report: Metreleptin Treatment in a Patient With a Novel Mutation for Familial Partial Lipodystrophy Type 3, Presenting With Uncontrolled Diabetes and Insulin Resistance
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2021.684182
Abstract: Background Familial partial lipodystrophy type 3 (FPLD3) is a very rare autosomal dominant genetic disorder which is caused by mutations in the peroxisome proliferator activated receptor gamma (PPARG) gene. It is characterized by a partial… read more here.
Keywords: treatment; familial partial; case; lipodystrophy type ... See more keywords
Case Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient
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DOI: 10.3389/fendo.2022.830708
Abstract: Purpose Familial partial lipodystrophy type 3 (FPLD3) is an autosomal dominant disease. Patients typically present with loss of adipose tissue and metabolic complications. Here, we reported a Chinese FPLD3 patient with a novel PPARG gene… read more here.
Keywords: patient; case; partial lipodystrophy; lipodystrophy type ... See more keywords
Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.869042
Abstract: A 48-year-old patient affected with congenital generalized lipodystrophy type 4 failed to respond to two doses of the BNT162b2 vaccine, consisting of lipid nanoparticle encapsulated mRNA. As the disease is caused by biallelic variants of… read more here.
Keywords: case report; lipodystrophy type; case; generalized lipodystrophy ... See more keywords