[A case report of congenital generalized lipodystrophy].
作者信息
Liu Rui, Tan Hui-Jun, Liu Jia-Jia, Song Yuan-Zong
机构信息
Department of Pediatrics, The First Affiliated Hospital of Jinan University, Guangzhou 510630, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Oct;20(10):857-860. doi: 10.7499/j.issn.1008-8830.2018.10.015.
Abstract
摘要
相似文献
1
[A case report of congenital generalized lipodystrophy].
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Oct;20(10):857-860. doi: 10.7499/j.issn.1008-8830.2018.10.015.
2
Case report: unicameral bone cysts in a young patient with acquired generalized lipodystrophy.
Clin Orthop Relat Res. 2010 May;468(5):1440-6. doi: 10.1007/s11999-009-1168-0. Epub 2009 Nov 19.
3
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.
Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1.
4
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
Eur J Med Genet. 2016 Jun;59(6-7):320-4. doi: 10.1016/j.ejmg.2016.05.001. Epub 2016 May 7.
5
Acromegaly with congenital generalized lipodystrophy - two rare insulin resistance conditions in one patient: a case report.
J Med Case Rep. 2020 Feb 21;14(1):34. doi: 10.1186/s13256-020-2352-9.
6
A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.
Clin Endocrinol (Oxf). 2020 Aug;93(2):212-214. doi: 10.1111/cen.14223. Epub 2020 Jun 8.
7
Retinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli-Seip Syndrome).
Middle East Afr J Ophthalmol. 2020 Jan 29;26(4):250-252. doi: 10.4103/meajo.MEAJO_94_19. eCollection 2019 Oct-Dec.
8
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case.
Indian J Dermatol Venereol Leprol. 2011 May-Jun;77(3):402. doi: 10.4103/0378-6323.79740.
9
Perilipin 1 Antibodies in Patients With Acquired Generalized Lipodystrophy.
Diabetes. 2023 Jan 1;72(1):16-18. doi: 10.2337/dbi22-0022.
10
GENERALIZED LIPODYSTROPHY.
Arch Dis Child. 1963 Oct;38(201):447-53. doi: 10.1136/adc.38.201.447.
本文引用的文献
1
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
Gene. 2017 Dec 30;637:57-62. doi: 10.1016/j.gene.2017.09.023. Epub 2017 Sep 12.
2
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
Am J Med Genet A. 2017 Feb;173(2):471-478. doi: 10.1002/ajmg.a.38053. Epub 2016 Nov 21.
3
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
Seizure. 2016 Nov;42:1-6. doi: 10.1016/j.seizure.2016.08.008. Epub 2016 Sep 5.
4
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.
J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):52-57. doi: 10.4274/jcrpe.3556. Epub 2016 Sep 9.
5
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
Eur J Med Genet. 2016 Jun;59(6-7):320-4. doi: 10.1016/j.ejmg.2016.05.001. Epub 2016 May 7.
6
Congenital generalized lipodystrophies--new insights into metabolic dysfunction.
Nat Rev Endocrinol. 2015 Sep;11(9):522-34. doi: 10.1038/nrendo.2015.123. Epub 2015 Aug 4.
7
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
PLoS One. 2015 Jul 15;10(7):e0131797. doi: 10.1371/journal.pone.0131797. eCollection 2015.
8
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Clin Genet. 2016 Apr;89(4):434-441. doi: 10.1111/cge.12623. Epub 2015 Jul 20.
9
Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin.
J Clin Endocrinol Metab. 2015 May;100(5):1802-10. doi: 10.1210/jc.2014-4491. Epub 2015 Mar 3.
10
Analyzing the functions and structure of the human lipodystrophy protein seipin.
Methods Enzymol. 2014;537:161-75. doi: 10.1016/B978-0-12-411619-1.00009-4.
Zotero 插件