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partial fat dystrophy 相关文献:
Hutchinson-Gilford Progeria Syndrome.
Gordon LB, Brown WT, Collins FS.
2003 Dec 12 [updated 2025 Mar 13]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301300
A-type lamin-linked lipodystrophies.
Vigouroux C, Capeau J.
Novartis Found Symp. 2005;264:166-77; discussion 177-82, 227-30.
PMID:15773753
Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
Anum, Li X, Garg A.
J Clin Endocrinol Metab. 2025 Dec 18;111(1):e214-e224. doi: 10.1210/clinem/dgaf279.
PMID:40367289
Partial Ablation of Non-Myogenic Progenitor Cells as a Therapeutic Approach to Duchenne Muscular Dystrophy.
Gao Z, Lu A, Daquinag AC, Yu Y, Huard M, Tseng C, Gao X, Huard J, Kolonin MG.
Biomolecules. 2021 Oct 15;11(10):1519. doi: 10.3390/biom11101519.
PMID:34680151
Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.
Vigouroux C, Guénantin AC, Vatier C, Capel E, Le Dour C, Afonso P, Bidault G, Béréziat V, Lascols O, Capeau J, Briand N, Jéru I.
Nucleus. 2018 Jan 1;9(1):235-248. doi: 10.1080/19491034.2018.1456217.
PMID:29578370
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin.
Carboni N, Brancati F, Cocco E, Solla E, D'Apice MR, Mateddu A, McIntyre A, Fadda E, Mura M, Lattanzi G, Piras R, Maioli MA, Marrosu G, Novelli G, Marrosu MG, Hegele RA.
Muscle Nerve. 2014 Jun;49(6):928-30. doi: 10.1002/mus.24157.
PMID:24375490
A woman with multifocal lipodystrophy in unilateral trunk and extremities.
Zi H, Pang A, Pu T, Lei X.
Neuro Endocrinol Lett. 2024 Nov 28;45(5):315-320.
PMID:39688657
[Calcium requirement in infants with intrauterine dystrophy (ID). Report II. Effect of differentiated diets with regard to quantity and quality of protein and fat on the calcium balance in infants with intrauterine dystrophy].
Wysokińska Z, Rudzka-Kańtoch Z, Zmarlicka M, Koziej M.
Probl Med Wieku Rozwoj. 1979;9:167-76.
PMID:263738
Diseases of adipose tissue: genetic and acquired lipodystrophies.
Capeau J, Magré J, Lascols O, Caron M, Béréziat V, Vigouroux C, Bastard JP.
Biochem Soc Trans. 2005 Nov;33(Pt 5):1073-7. doi: 10.1042/BST0331073.
PMID:16246048
Epigenetic control of skeletal muscle regeneration: Integrating genetic determinants and environmental changes.
Giordani L, Puri PL.
FEBS J. 2013 Sep;280(17):4014-25. doi: 10.1111/febs.12383. Epub 2013 Jul 15.
PMID:23745685
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