نتایج جستجو برای: congenital generalized lipodystrophy

تعداد نتایج: 286938  

2016
Peter L. Lee Yuefeng Tang Huawei Li David A. Guertin

OBJECTIVE Normal adipose tissue growth and function is critical to maintaining metabolic homeostasis and its excess (e.g. obesity) or absence (e.g. lipodystrophy) is associated with severe metabolic disease. The goal of this study was to understand the mechanisms maintaining healthy adipose tissue growth and function. METHODS Adipose tissue senses and responds to systemic changes in growth fa...

Journal: :European journal of endocrinology 2012
Patricia B Mory Felipe Crispim Maria Beatriz S Freire João Eduardo N Salles Cynthia M Valério Amelio F Godoy-Matos Sérgio A Dib Regina S Moisés

OBJECTIVE Mutations in LMNA have been linked to diverse disorders called laminopathies, which display heterogeneous phenotypes and include diseases affecting muscles, axonal neurons, progeroid syndromes, and lipodystrophies. Among the lipodystrophies, LMNA mutations have been reported most frequently in patients with familial partial lipodystrophy (FPLD) of the Dunnigan variety; however, phenot...

BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst i...

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