未登录 A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia Simha, V.; LoPiccolo, M.K.; Platt, A.; Brown, R.J.; Johnson, X.; Carere, D.A.; Donnelly, C.; Snyder, M.T.; Xing, C.; Mathews, T.P.; 等. 一种复发性ACAA2变异导致一种显性综合征,其特征为脂肪营养不良、脂肪瘤病、婴儿期脂肪肝和低血糖。J. Clin. Investig. 2026, 136, e198888. [Google Scholar] [CrossRef] [PubMed] Simha, Vinaya; LoPiccolo, Mary Kate; Platt, Anna; Brown, Rebecca J.; Johnson, Xandria; Carere, Deanna Alexis; Donnelly, Colleen; Snyder, Matthew T.; Xing, Chao; Mathews, Thomas P.; Gopal, Purva; Ward, Stephen C.; Tomchick, Diana R.; Agarwal, Anil K.; DeBerardinis, Ralph J.; Garg, Abhimanyu 分享 收藏
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Dried blood spot-based free sterol signatures in sitosterolemia diagnostics 谷甾醇血症诊断中基于干血斑的游离固醇特征 Kwon, Go Eun; Son, Hyun-Hwa; Moon, Ju-Yeon; Lee, Ayoung; Jung, Mo Kyung; Rhie, Seonkyeong; Park, Mi Jung; Garg, Abhimanyu; Yoo, Eun-Gyong; Choi, Man Ho 分享 收藏
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Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant Garg, Abhimanyu; Keng, Wee-Teik; Chen, Zhenkang; Sathe, Adwait Amod; Xing, Chao; Kailasam, Pavithira Devi; Shao, Yanqiu; Lesner, Nicholas P.; Llamas, Claire B.; Agarwal, Anil K.; Mishra, Prashant 分享 收藏
Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study Oral, Elif A.; Garg, Abhimanyu; Tami, Joseph; Huang, Eric A.; O'Dea, Louis St. L.; Schmidt, Hartmut; Tiulpakov, Anatoly; Mertens, Ann; Alexander, Veronica J.; Watts, Lynnetta; Hurh, Eunju; Witztum, Joseph L.; Geary, Richard S.; Tsimikas, Sotirios 分享 收藏
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Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy Mandel-Brehm, Caleigh; Vazquez, Sara E.; Liverman, Christopher; Cheng, Mickie; Quandt, Zoe; Kung, Andrew F.; Parent, Audrey; Miao, Brenda; Disse, Emmanuel; Cugnet-Anceau, Christine; Dalle, Stephane; Orlova, Elizaveta; Frolova, Elena; Alba, Diana; Michels, Aaron; Oftedal, Bergithe E.; Lionakis, Michail S.; Husebye, Eystein S.; Agarwal, Anil K.; Li, Xilong; Zhu, Chengsong; Li, Quan; Oral, Elif; Brown, Rebecca; Anderson, Mark S.; Garg, Abhinmanyu; DeRisi, Joseph L. 分享 收藏
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Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant Hussain, Iram; Jin, Ruilin Raelene; Baum, Howard B. A.; Greenfield, Jerry R.; Devery, Sophie; Xing, Chao; Hegele, Robert A.; Carranza-Leon, Barbara G.; Linton, Macrae F.; Vuitch, Frank; Wu, Kathy H. C.; Precioso, Debora Rossi; Oshima, Junko; Agarwal, Anil K.; Garg, Abhimanyu 分享 收藏