Identification and characterization of a case of mild familial partial lipodystrophy in a carrier of a LMNA p.Arg582Leu variant

被引：0

作者：

Barile, Anna Maria ^{[1
,2
]}

Randazzo, Cristiana ^{[1
,2
]}

Di Gaudio, Francesca ^{[1
,3
,4
]}

Buscemi, Carola ^{[1
]}

Brunacci, Giuseppina ^{[3
,4
]}

Buscemi, Silvio ^{[1
,2
]}

机构：

[1] Univ Palermo, Dipartimento Promoz Salute, Materno Infantile, Med Interna & Specialist Eccellenza PROMISE, Piazza Clin 2, I-90127 Palermo, Italy

[2] AOU Policlin P Giaccone, Unit Clin Nutr Obes & Metab Dis, Palermo, Italy

[3] Villa Sofia Cervello Hosp, Unit Chromatog, Palermo, Italy

[4] Villa Sofia Cervello Hosp, Mass Spectrometry Sect, Qual Control & Chem Risk CQRC, Palermo, Italy

来源：

关键词：

Lipodystrophy; Dunnigan syndrome; Adiposopathy; Insulin resistance;

D O I：

10.1007/s00592-024-02396-w

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：285 / 288

页数：4

共 2 条