The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature-Reference-Cited by-同舟云学术

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The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature

Published:2018-05-10 Issue:1 Volume:19 Page:
ISSN:1471-2369
Container-title:BMC Nephrology
language:en
Short-container-title:BMC Nephrol

Author:

Chen Ru-Xuan,Zhang Lei,Ye Wei,Wen Yu-Bing,Si Nuo,Li Hang,Li Ming-Xi,Li Xue-Mei,Zheng Ke

Funder

Chinese Academy of Medical Science (CAMS) Initiative for Innovative Medicine

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

http://link.springer.com/content/pdf/10.1186/s12882-018-0913-6.pdf

Reference26 articles.

1. Hussain I, Garg A. Lipodystrophy syndromes. Endocrinol Metab Clin N Am. 2016;45(4):783–97.

2. Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, et al. The diagnosis and Management of Lipodystrophy Syndromes: a multi-society practice guideline. J Clin Endocrinol Metab. 2016;101(12):4500–11.

3. Jeru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O. Clinical utility gene card for: familial partial lipodystrophy. Eur J Hum Genet. 2017;25(2). https://www.nature.com/articles/ejhg2016102/ . https://doi.org/10.1038/ejhg.2016.102 .

4. Kozusko K, Tsang VH, Bottomley W, Cho YH, Gandotra S, Mimmack M, Lim K, Isaac I, Patel S, Saudek V, et al. Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. Diabetes. 2015;64(1):299–310.

5. Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Charpentier G, Auclair M, Delepine M, Barroso I, et al. Perilipin deficiency and autosomal dominant partial lipodystrophy. N Engl J Med. 2011;364(8):740–8.

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