日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunction

在一名患有非典型部分脂肪营养不良症的患者中发现的EBF2变异会导致脂肪纤维化和功能障碍。

Foss-Freitas, Maria C; Gilio, Donatella; Pais, Lynn; Buras, Eric D; Kaul Verma, Romil; O'Leary, Melanie; Rehm, Heidi L; Glaze, Carmen; Russell, Kathryn; Monteiro da Rocha, Andre; Neidert, Adam; Seale, Patrick; Udler, Miriam S; Oral, Elif A; Chun, Tae-Hwa

Altered lipid metabolism and inflammatory programs associate with adipocyte loss in familial partial lipodystrophy 2

家族性部分脂肪营养不良症中,脂质代谢改变和炎症程序与脂肪细胞丢失相关<sup>2</sup>

Maung, Jessica N; Schill, Rebecca L; Nishii, Akira; Foss de Freitas, Maria; Obua, Bonje N; Nygård, Marcus; Mendez-Casillas, Maria D; Hermsmeyer, Isabel Dk; Gilio, Donatella; Besci, Ozge; Chen, Yang; Desrosiers, Brian; Adler, Rose E; Gomes, Anabela D; Celik Guler, Merve; Mori, Hiroyuki; Uranga, Romina M; Li, Ziru; Hariri, Hadla; Zhang, Liping; de Paula Souza, Anderson; Hoose, Keegan S; Lewis, Kenneth T; Hetrick, Taryn A; Cederna, Paul; Lumeng, Carey N; Mandrup, Susanne; Oral, Elif A; MacDougald, Ormond A

Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum

病例报告:家族性部分脂肪营养不良症,描述具有独特表型谱的新型和超罕见变异体

Magno, Silvia; Pelosini, Caterina; Paoli, Melania; Gilio, Donatella; Palladino, Lavinia; Menconi, Francesca; Barison, Andrea; Todiere, Giancarlo; Ortori, Simona; Coco, Barbara; Paolucci, Giordano; Salvetti, Guido; Sessa, Maria Rita; Ceccarini, Giovanni; Santini, Ferruccio

SUN-644 Pharmacological Approaches in Lipodystrophy: Concomitant Medication and Metreleptin Therapy Use in the Participants of LD-Lync Study

SUN-644 脂肪营养不良的药理学方法:LD-Lync 研究参与者中伴随用药和米曲普汀治疗的使用

Du, Shicong; Lin, Huiju; Luo, Qiong; Man, Chung Ling; Lai, Sze Han; Ho, Kin Fai; Leung, Kenneth M Y; Lee, Patrick K H; Guler, Merve Celik; Besci, Ozge; Foss de Freitas, Maria Cristina; Yosef, Matheos; Khalatbari, Shoukoufeh; Ashmus, Michelle; Guler, Demircan; Gilio, Donatella; Kaba, Diarratou; Uwandu, Chika Divine; Gomes, Anabela Dill; Tuska, Rebecca; Brush, Maiah; Hwang, Michael; Neal, Trinity; Tracey, Britney; Okawa, Marinna; Brite, Brianna; Richison, Carman; Simsir, Ilgin Yildirim; Akinci, Baris; Brown, Rebecca J; Oral, Elif A; Guler, Merve Celik; Foss de Freitas, Maria Cristina; Yosef, Matheos; Khalatbari, Shoukoufeh; Ashmus, Michelle; Guler, Demircan; Gilio, Donatella; Kaba, Diarratou; Gomes, Anabela Dill; Uwandu, Chika Divine; Brush, Maiah; Tuska, Rebecca; Neal, Trinity; Hwang, Michael; Tracey, Britney; Okawa, Marinna; Brite, Brianna; Richison, Carman; Simsir, Ilgin Yildirim; Akinci, Baris; Brown, Rebecca J; Oral, Elif A

Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment

脂肪营养不良综合征临床指南:从诊断和检查到治疗

Gilio, Donatella; Foss-Freitas, Maria; Oral, Elif A

Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism

脂肪营养不良综合征:一个名称,多种疾病,凸显脂肪组织在代谢中的重要性

Foss-Freitas, Maria; Gilio, Donatella; Oral, Elif A

Effects of FGF21, soluble TGFBR2, and environmental temperature on metabolic dysfunction in lipodystrophic mice.

FGF21、可溶性TGFBR2和环境温度对脂肪营养不良小鼠代谢功能障碍的影响

Maung Jessica N, Chen Yang, Hoose Keegan S, Adler Rose E, Hariri Hadla, Dickson Mia J, Hetrick Taryn A, Ferguson Gabriel A, Schill Rebecca L, Mori Hiroyuki, Uranga Romina M, Lewis Kenneth T, Hermsmeyer Isabel Dk, Gilio Donatella, de Solis Christopher, Toliver Amber, Davidsohn Noah, Oral Elif A, MacDougald Ormond A

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant

MNGIE表型谱的扩展:与p.Arg393_Val400dup TYMP变异相关的脂肪营养不良和代谢改变

Gilio, Donatella; Pelosini, Caterina; Magno, Silvia; Venanzi, Jacopo Maria; Daniotti, Marta; Paoli, Melania; Palladino, Lavinia; Sessa, Maria Rita; Ricci, Franco; Procopio, Elena; Ceccarini, Giovanni; Santini, Ferruccio

Changes After Leptin Administration in Partial Lipodystrophy and Factors Associated With Hepatic and Metabolic Response.

瘦素给药后部分脂肪营养不良症的变化及与肝脏和代谢反应相关的因素

Akinci Baris, Ajluni Nevin, Meral Rasimcan, Neidert Adam Hugh, Freitas Maria Foss, Gilio Donatella, Conjeevaram Hari, Oral Elif Arioglu

Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome

父母遗传来源对家族性部分脂肪营养不良2型综合征临床表现的潜在影响

Gilio, Donatella; Besci, Ozge; Guidorizzi, Natália Rossin; Guler, Merve Celik; Simsir, Ilgin Yildirim; Pelosini, Caterina; Ceccarini, Giovanni; Demir, Korcan; Akinci, Baris; Santini, Ferruccio; Foss-Freitas, Maria Cristina; Oral, Elif A