Clinical characteristics and efficacy of pioglitazone in a Japanese patient with familial partial lipodystrophy due to peroxisome proliferator-activated receptor γ gene mutation
Author:
Affiliation:
1. Division of Diabetes, Metabolism and Endocrinology, Showa University Fujigaoka Hospital, Kanagawa 227-8501, Japan
2. Division of Endocrinology and Metabolism, Jichi Medical University, Tochigi 329-0498, Japan
Publisher
Japan Endocrine Society
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://www.jstage.jst.go.jp/article/endocrj/70/1/70_EJ22-0140/_pdf
Reference20 articles.
1. 1 Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, et al. (2016) The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline. J Clin Endocrinol Metab 101: 4500–4511.
2. 2 Tanaka T, Kusakabe T, Ebihara K, Aizawa-Abe M, Aotani D, et al. (2021) Practice guideline for lipodystrophy syndromes-clinically important diseases of the Japan Endocrine Society (JES). Endocr J 68: 1027–1042.
3. 3 Barroso I, Gurnell M, Crowley VE, Agostini M, Schwabe JW, et al. (1999) Dominant negative mutations in human PPAR gamma associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 402: 880–883.
4. 4 Vigouroux C, Caron-Debarle M, Le Dour C, Magré J, Capeau J (2011) Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicity. Int J Biochem Cell Biol 43: 862–876.
5. 5 Lefterova MI, Haakonsson AK, Lazar MA, Mandrup S (2014) PPARγ and the global map of adipogenesis and beyond. Trends Endocrinol Metab 25: 293–302.
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1. Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene;Frontiers in Genetics;2024-07-24
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