Rapid response to leptin therapy in a FPLD patient with a novel PPARG missense variant

SUMMARY: Familial partial lipodystrophy (FPLD) syndromes are rare heterogeneous disorders especially in women characterized by selective loss of adipose tissue, reduced leptin levels and severe metabolic abnormalities. Here we report a 34-year-old female with a novel heterozygotic c.485 thymine>g...

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Detalles Bibliográficos
Autores principales: Melzer, Fiona, Geisler, Corinna, Schulte, Dominik M, Laudes, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8495725/
https://www.ncbi.nlm.nih.gov/pubmed/34515658
http://dx.doi.org/10.1530/EDM-21-0082

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8495725/
https://www.ncbi.nlm.nih.gov/pubmed/34515658
http://dx.doi.org/10.1530/EDM-21-0082

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