메뉴 건너뛰기




Volumn 86, Issue 5, 2017, Pages 698-707

Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; CREATININE; HEMOGLOBIN; HEMOGLOBIN A1C; LEPTIN; TRIACYLGLYCEROL;

EID: 85016320656     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.13311     Document Type: Article
Times cited : (78)

References (38)
  • 1
    • 77953939677 scopus 로고    scopus 로고
    • Clinical classification and treatment of congenital and acquired lipodystrophy
    • Chan, J.L. & Oral, E.A. (2010) Clinical classification and treatment of congenital and acquired lipodystrophy. Endocrine Practice, 16, 310–323.
    • (2010) Endocrine Practice , vol.16 , pp. 310-323
    • Chan, J.L.1    Oral, E.A.2
  • 2
    • 80655145234 scopus 로고    scopus 로고
    • Clinical review#: lipodystrophies: genetic and acquired body fat disorders
    • Garg, A. (2011) Clinical review#: lipodystrophies: genetic and acquired body fat disorders. Journal of Clinical Endocrinology and Metabolism, 96, 3313–3325.
    • (2011) Journal of Clinical Endocrinology and Metabolism , vol.96 , pp. 3313-3325
    • Garg, A.1
  • 3
    • 84881513620 scopus 로고    scopus 로고
    • The clinical approach to the detection of lipodystrophy - an AACE consensus statement
    • Handelsman, Y., Oral, E.A., Bloomgarden, Z.T. et al. (2013) The clinical approach to the detection of lipodystrophy - an AACE consensus statement. Endocrine practice, 19, 107–116.
    • (2013) Endocrine practice , vol.19 , pp. 107-116
    • Handelsman, Y.1    Oral, E.A.2    Bloomgarden, Z.T.3
  • 4
    • 79955907495 scopus 로고    scopus 로고
    • Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicity
    • Vigouroux, C., Caron-Debarle, M., Le Dour, C. et al. (2011) Molecular mechanisms of human lipodystrophies: from adipocyte lipid droplet to oxidative stress and lipotoxicity. International Journal of Biochemistry & Cell Biology, 43, 862–876.
    • (2011) International Journal of Biochemistry & Cell Biology , vol.43 , pp. 862-876
    • Vigouroux, C.1    Caron-Debarle, M.2    Le Dour, C.3
  • 5
    • 84919711918 scopus 로고    scopus 로고
    • A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy
    • Farhan, S.M., Robinson, J.F., McIntyre, A.D. et al. (2014) A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. Canadian Journal of Cardiology, 30, 1649–1654.
    • (2014) Canadian Journal of Cardiology , vol.30 , pp. 1649-1654
    • Farhan, S.M.1    Robinson, J.F.2    McIntyre, A.D.3
  • 6
    • 85016953383 scopus 로고    scopus 로고
    • Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy
    • Garg, A., Sankella, S., Xing, C. et al. (2016) Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. JCI Insight, 1, e86870.
    • (2016) JCI Insight , vol.1
    • Garg, A.1    Sankella, S.2    Xing, C.3
  • 7
    • 0025787190 scopus 로고
    • Validation of body composition by dual energy X-ray absorptiometry (DEXA)
    • Haarbo, J., Gotfredsen, A., Hassager, C. et al. (1991) Validation of body composition by dual energy X-ray absorptiometry (DEXA). Clinical Physiology, 11, 331–341.
    • (1991) Clinical Physiology , vol.11 , pp. 331-341
    • Haarbo, J.1    Gotfredsen, A.2    Hassager, C.3
  • 8
    • 20044374023 scopus 로고    scopus 로고
    • Design and validation of a histological scoring system for nonalcoholic fatty liver disease
    • Kleiner, D.E., Brunt, E.M., Van Natta, M. et al. (2005) Design and validation of a histological scoring system for nonalcoholic fatty liver disease. Hepatology, 41, 1313–1321.
    • (2005) Hepatology , vol.41 , pp. 1313-1321
    • Kleiner, D.E.1    Brunt, E.M.2    Van Natta, M.3
  • 9
    • 0033912260 scopus 로고    scopus 로고
    • Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
    • Speckman, R.A., Garg, A., Du, F. et al. (2000) Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. American Journal of Human Genetics, 66, 1192–1198.
    • (2000) American Journal of Human Genetics , vol.66 , pp. 1192-1198
    • Speckman, R.A.1    Garg, A.2    Du, F.3
  • 10
    • 77954581091 scopus 로고    scopus 로고
    • Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety & cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations
    • Subramanyam, L., Simha, V. & Garg, A. (2010) Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety & cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. Clinical Genetics, 78, 66–73.
    • (2010) Clinical Genetics , vol.78 , pp. 66-73
    • Subramanyam, L.1    Simha, V.2    Garg, A.3
  • 11
    • 84855810513 scopus 로고    scopus 로고
    • Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report
    • Kalil, K.A. & Fargalley, H.S. (2012) Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report. Journal of Medical Case Reports, 6, 17.
    • (2012) Journal of Medical Case Reports , vol.6 , pp. 17
    • Kalil, K.A.1    Fargalley, H.S.2
  • 12
    • 58149087318 scopus 로고    scopus 로고
    • Inhibition of lamin A/C attenuates osteoblast differentiation and enhances RANKL-dependent osteoclastogenesis
    • Rauner, M., Sipos, W., Goettsch, C. et al. (2009) Inhibition of lamin A/C attenuates osteoblast differentiation and enhances RANKL-dependent osteoclastogenesis. Journal of Bone and Mineral Research, 24, 78–86.
    • (2009) Journal of Bone and Mineral Research , vol.24 , pp. 78-86
    • Rauner, M.1    Sipos, W.2    Goettsch, C.3
  • 13
    • 84865765996 scopus 로고    scopus 로고
    • Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations
    • Mory, P.B., Crispim, F., Freire, M.B. et al. (2012) Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. European Journal of Endocrinology, 167, 423–431.
    • (2012) European Journal of Endocrinology , vol.167 , pp. 423-431
    • Mory, P.B.1    Crispim, F.2    Freire, M.B.3
  • 14
    • 84890490290 scopus 로고    scopus 로고
    • Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA
    • Thong, K.M., Xu, Y., Cook, J. et al. (2013) Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. Nephron. Clinical practice 124, 31–37.
    • (2013) Nephron. Clinical practice , vol.124 , pp. 31-37
    • Thong, K.M.1    Xu, Y.2    Cook, J.3
  • 15
    • 70349280466 scopus 로고    scopus 로고
    • Dual energy X-Ray absorptiometry body composition reference values from NHANES
    • Kelly, T.L., Wilson, K.E. & Heymsfield, S.B. (2009) Dual energy X-Ray absorptiometry body composition reference values from NHANES. PLoS One, 4, e7038.
    • (2009) PLoS One , vol.4
    • Kelly, T.L.1    Wilson, K.E.2    Heymsfield, S.B.3
  • 16
    • 84904984987 scopus 로고    scopus 로고
    • National Health and Nutrition Examination Survey whole-body dual-energy X-ray absorptiometry reference data for GE Lunar systems
    • Fan, B., Shepherd, J.A., Levine, M.A. et al. (2014) National Health and Nutrition Examination Survey whole-body dual-energy X-ray absorptiometry reference data for GE Lunar systems. Journal of clinical densitometry, 17, 344–377.
    • (2014) Journal of clinical densitometry , vol.17 , pp. 344-377
    • Fan, B.1    Shepherd, J.A.2    Levine, M.A.3
  • 17
    • 77952289819 scopus 로고    scopus 로고
    • Anthropometric reference data for children and adults: united States, 1988-1994
    • McDowell, M.A., Fryar, C.D. & Ogden, C.L. (2009) Anthropometric reference data for children and adults: united States, 1988-1994. Vital Health Statistics 11, 249, 1–68.
    • (2009) Vital Health Statistics 11 , vol.249 , pp. 1-68
    • McDowell, M.A.1    Fryar, C.D.2    Ogden, C.L.3
  • 18
    • 84929347106 scopus 로고    scopus 로고
    • Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin
    • Diker-Cohen, T., Cochran, E., Gorden, P. et al. (2015) Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. Journal of Clinical Endocrinology and Metabolism, 100, 1802–1810.
    • (2015) Journal of Clinical Endocrinology and Metabolism , vol.100 , pp. 1802-1810
    • Diker-Cohen, T.1    Cochran, E.2    Gorden, P.3
  • 19
    • 85013239544 scopus 로고    scopus 로고
    • Efficacy and safety of metreleptin in patients with partial lipodystrophy: lessons from an expanded access program
    • Ajluni, N., Dar, M., Xu, J. et al. (2016) Efficacy and safety of metreleptin in patients with partial lipodystrophy: lessons from an expanded access program. Journal of Diabetes & Metabolism, 7, 659.
    • (2016) Journal of Diabetes & Metabolism , vol.7 , pp. 659
    • Ajluni, N.1    Dar, M.2    Xu, J.3
  • 20
    • 12144259379 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population
    • Szczepaniak, L.S., Nurenberg, P., Leonard, D. et al. (2005) Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population. American Journal of Physiology. Endocrinology and Metabolism, 288, E462–E468.
    • (2005) American Journal of Physiology. Endocrinology and Metabolism , vol.288 , pp. E462-E468
    • Szczepaniak, L.S.1    Nurenberg, P.2    Leonard, D.3
  • 21
    • 84986568306 scopus 로고    scopus 로고
    • A clinical pharmacology-regulatory perspective on the approval of drugs for rare diseases
    • Bashaw, E.D. (2016) A clinical pharmacology-regulatory perspective on the approval of drugs for rare diseases. Clinical Pharmacology and Therapeutics, 100, 327–329.
    • (2016) Clinical Pharmacology and Therapeutics , vol.100 , pp. 327-329
    • Bashaw, E.D.1
  • 22
  • 23
    • 84969165395 scopus 로고    scopus 로고
    • Clinical utility gene card for: congenital generalized lipodystrophy
    • Jeru, I., Vatier, C., Araujo-Vilar, D. et al. (2016) Clinical utility gene card for: congenital generalized lipodystrophy. European Journal of Human Genetics, 24, e1–e4.
    • (2016) European Journal of Human Genetics , vol.24 , pp. e1-e4
    • Jeru, I.1    Vatier, C.2    Araujo-Vilar, D.3
  • 24
    • 84995459787 scopus 로고    scopus 로고
    • Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance
    • Lotta, L.A., Gulati, P., Day, F.R. et al. (2017) Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. Nature Genetics, 49, 17–26.
    • (2017) Nature Genetics , vol.49 , pp. 17-26
    • Lotta, L.A.1    Gulati, P.2    Day, F.R.3
  • 25
    • 84881025265 scopus 로고    scopus 로고
    • An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
    • Weedon, M.N., Ellard, S., Prindle, M.J. et al. (2013) An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nature Genetics, 45, 947–950.
    • (2013) Nature Genetics , vol.45 , pp. 947-950
    • Weedon, M.N.1    Ellard, S.2    Prindle, M.J.3
  • 26
    • 1542642958 scopus 로고    scopus 로고
    • Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature
    • Misra, A., Peethambaram, A. & Garg, A. (2004) Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore), 83, 18–34.
    • (2004) Medicine (Baltimore) , vol.83 , pp. 18-34
    • Misra, A.1    Peethambaram, A.2    Garg, A.3
  • 27
    • 85003601739 scopus 로고    scopus 로고
    • The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline
    • Brown, R.J., Araujo-Vilar, D., Cheung, P.T. et al. (2016) The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline. Journal of Clinical Endocrinology and Metabolism, 101, 4500–4511.
    • (2016) Journal of Clinical Endocrinology and Metabolism , vol.101 , pp. 4500-4511
    • Brown, R.J.1    Araujo-Vilar, D.2    Cheung, P.T.3
  • 28
    • 84979994375 scopus 로고    scopus 로고
    • Type 1 familial partial lipodystrophy: understanding the Kobberling syndrome
    • Guillin-Amarelle, C., Sanchez-Iglesias, S., Castro-Pais, A. et al. (2016) Type 1 familial partial lipodystrophy: understanding the Kobberling syndrome. Endocrine, 54, 411–421.
    • (2016) Endocrine , vol.54 , pp. 411-421
    • Guillin-Amarelle, C.1    Sanchez-Iglesias, S.2    Castro-Pais, A.3
  • 29
    • 84922267807 scopus 로고    scopus 로고
    • Proposed ratios and cutoffs for the assessment of lipodystrophy in HIV-seropositive individuals
    • Beraldo, R.A., Vassimon, H.S., Aragon, D.C. et al. (2015) Proposed ratios and cutoffs for the assessment of lipodystrophy in HIV-seropositive individuals. European Journal of Clinical Nutrition, 69, 274–278.
    • (2015) European Journal of Clinical Nutrition , vol.69 , pp. 274-278
    • Beraldo, R.A.1    Vassimon, H.S.2    Aragon, D.C.3
  • 33
    • 84930791899 scopus 로고    scopus 로고
    • High prevalence of nonalcoholic fatty liver disease in patients with type 2 diabetes mellitus and normal plasma aminotransferase levels
    • Portillo-Sanchez, P., Bril, F., Maximos, M. et al. (2015) High prevalence of nonalcoholic fatty liver disease in patients with type 2 diabetes mellitus and normal plasma aminotransferase levels. Journal of Clinical Endocrinology and Metabolism, 100, 2231–2238.
    • (2015) Journal of Clinical Endocrinology and Metabolism , vol.100 , pp. 2231-2238
    • Portillo-Sanchez, P.1    Bril, F.2    Maximos, M.3
  • 34
    • 84858027751 scopus 로고    scopus 로고
    • Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypoleptinemic patients with familial partial lipodystrophy of the Dunnigan variety
    • Simha, V., Subramanyam, L., Szczepaniak, L. et al. (2012) Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypoleptinemic patients with familial partial lipodystrophy of the Dunnigan variety. Journal of Clinical Endocrinology and Metabolism, 97, 785–792.
    • (2012) Journal of Clinical Endocrinology and Metabolism , vol.97 , pp. 785-792
    • Simha, V.1    Subramanyam, L.2    Szczepaniak, L.3
  • 35
    • 84962045933 scopus 로고    scopus 로고
    • Prevalence and co-prevalence of comorbidities among patients with type 2 diabetes mellitus
    • Iglay, K., Hannachi, H., Joseph Howie, P. et al. (2016) Prevalence and co-prevalence of comorbidities among patients with type 2 diabetes mellitus. Current Medical Research and Opinion, 32, 1243–1252.
    • (2016) Current Medical Research and Opinion , vol.32 , pp. 1243-1252
    • Iglay, K.1    Hannachi, H.2    Joseph Howie, P.3
  • 36
    • 0035374580 scopus 로고    scopus 로고
    • The prevalence of comorbid depression in adults with diabetes: a meta-analysis
    • Anderson, R.J., Freedland, K.E., Clouse, R.E. et al. (2001) The prevalence of comorbid depression in adults with diabetes: a meta-analysis. Diabetes Care, 24, 1069–1078.
    • (2001) Diabetes Care , vol.24 , pp. 1069-1078
    • Anderson, R.J.1    Freedland, K.E.2    Clouse, R.E.3
  • 38
    • 75649128684 scopus 로고    scopus 로고
    • A validated disease severity scoring system for adults with type 1 Gaucher disease
    • Weinreb, N.J., Cappellini, M.D., Cox, T.M. et al. (2010) A validated disease severity scoring system for adults with type 1 Gaucher disease. Genetics in Medicine, 12, 44–51.
    • (2010) Genetics in Medicine , vol.12 , pp. 44-51
    • Weinreb, N.J.1    Cappellini, M.D.2    Cox, T.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.