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

Özalkak, Servan; Demiral, Meliha; Ünal, Edip; Tas, Funda Feryal; Onay, Hüseyin; Demirbilek, Hüseyin; Özbek, Mehmet Nuri

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

Özalkak, Servan; Demiral, Meliha; Ünal, Edip; Tas, Funda Feryal; Onay, Hüseyin; Demirbilek, Hüseyin; Özbek, Mehmet Nuri.

Affiliation

Özalkak S; Gazi Yasargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakir, Turkey
Demiral M; Balikesir City Hospital, Clinic of Pediatric Endocrinology, Balikesir, Turkey
Ünal E; Dicle University Faculty of Medicine, Department of Paediatric Endocrinology, Diyarbakir, Turkey
Tas FF; Gazi Yasargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakir, Turkey
Onay H; Multigen Genetic Diseases Diagnosis Center, Department of Medical Genetics, Izmir Turkey
Demirbilek H; Hacettepe University Faculty of Medicine, Department of Paediatric Endocrinology, Ankara, Turkey
Özbek MN; Gazi Yasargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakir, Turkey

J Clin Res Pediatr Endocrinol ; 15(3): 329-333, 2023 08 23.

Article in En | MEDLINE | ID: mdl-35735786

Subject(s)

GTP-Binding Protein gamma Subunits; Hyperinsulinism; Hypertriglyceridemia; Lipodystrophy, Congenital Generalized; Child; Humans; Infant; Male; GTP-Binding Protein gamma Subunits/genetics; GTP-Binding Protein gamma Subunits/metabolism; Hyperinsulinism/complications; Hyperphagia/complications; Hypertriglyceridemia/complications; Leptin/genetics; Leptin/metabolism; Lipodystrophy, Congenital Generalized/drug therapy; Lipodystrophy, Congenital Generalized/genetics; Lipodystrophy, Congenital Generalized/complications; Mutation; Quality of Life

Key words

BSCL2 gene; Congenital generalized lipodystrophy; metreleptin treatment

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypertriglyceridemia / GTP-Binding Protein gamma Subunits / Lipodystrophy, Congenital Generalized / Hyperinsulinism Aspects: Patient_preference Limits: Child / Humans / Infant / Male Language: En Journal: J Clin Res Pediatr Endocrinol Year: 2023 Document type: Article Affiliation country: Turkey Country of publication: Turkey

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