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A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies

Archive ouverte | Treiber, Guillaume | CCSD

International audience. Aims: LMNA-linked familial partial lipodystrophy type 2 (FPLD2) leads to insulin resistance-associated metabolic complications and cardiovascular diseases. We aimed to characterise the diseas...

Familial partial lipodystrophy type 2 and obesity, two adipose tissue pathologies with different inflammatory profiles

Archive ouverte | Treiber, Guillaume | CCSD

International audience. The transition to metabolically unhealthy obesity (MUO) is driven by the limited expandability of adipose tissue (AT). Familial Partial Lipodystrophy type 2 (FPLD2) is an alternative model fo...

Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy

Archive ouverte | Mosbah, Héléna | CCSD

International audience. Abstract Objective Underdiagnosis is an important issue in genetic lipodystrophies, which are rare diseases with metabolic, cardiovascular, gynecological, and psychological complications. We ...

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