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

• প্রধান লেখক: Şervan Özalkak (Author), Meliha Demiral (Author), Edip Ünal (Author), Funda Feryal Taş (Author), Hüseyin Onay (Author), Hüseyin Demirbilek (Author), Mehmet Nuri Ozbek (Author)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Galenos Yayincilik, 2023-09-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...