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

IF 3.1 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Acta Diabetologica Pub Date : 2024-10-29 DOI:10.1007/s00592-024-02396-w

Anna Maria Barile, Cristiana Randazzo, Francesca Di Gaudio, Carola Buscemi, Giuseppina Brunacci, Silvio Buscemi

引用次数: 0

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对一例 LMNA p.Arg582Leu 变异携带者轻度家族性部分脂肪营养不良病例的鉴定和特征描述。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Acta Diabetologica 医学-内分泌学与代谢

CiteScore

7.30

自引率

2.60%

发文量

180

审稿时长

2 months

期刊介绍： Acta Diabetologica is a journal that publishes reports of experimental and clinical research on diabetes mellitus and related metabolic diseases. Original contributions on biochemical, physiological, pathophysiological and clinical aspects of research on diabetes and metabolic diseases are welcome. Reports are published in the form of original articles, short communications and letters to the editor. Invited reviews and editorials are also published. A Methodology forum, which publishes contributions on methodological aspects of diabetes in vivo and in vitro, is also available. The Editor-in-chief will be pleased to consider articles describing new techniques (e.g., new transplantation methods, metabolic models), of innovative importance in the field of diabetes/metabolism. Finally, workshop reports are also welcome in Acta Diabetologica.