Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants-Reference-Cited by-同舟云学术

Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants

Published:2019-03-11 Issue:8 Volume:104 Page:3068-3076
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Sekizkardes Hilal¹,Cochran Elaine²,Malandrino Noemi²,Garg Abhimanyu³,Brown Rebecca J²^ORCID

Affiliation:

1. Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland

2. National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland

3. Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, and Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

Southwestern Medical Foundation

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/104/8/3068/28806154/jc.2018-02787.pdf

Reference27 articles.

1. Acquired and inherited lipodystrophies;Garg;N Engl J Med,2004

2. Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension;Barroso;Nature,1999

3. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy;Cao;Hum Mol Genet,2000

4. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy;Shackleton;Nat Genet,2000

5. Clinical review: Lipodystrophies: genetic and acquired body fat disorders;Garg;J Clin Endocrinol Metab,2011

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