Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has been suggested as an effective treatment option. We p...

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Detalles Bibliográficos
Autores principales: Özalkak, Şervan, Demiral, Meliha, Ünal, Edip, Taş, Funda Feryal, Onay, Hüseyin, Demirbilek, Hüseyin, Özbek, Mehmet Nuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10448557/
https://www.ncbi.nlm.nih.gov/pubmed/35735786
http://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-1-25

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10448557/
https://www.ncbi.nlm.nih.gov/pubmed/35735786
http://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-1-25

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