{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T22:45:23Z","timestamp":1785278723414,"version":"3.55.0"},"reference-count":115,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2004,6,1]],"date-time":"2004-06-01T00:00:00Z","timestamp":1086048000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2004,6,1]],"date-time":"2004-06-01T00:00:00Z","timestamp":1086048000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Endocrinology and Metabolism Clinics of North America"],"published-print":{"date-parts":[[2004,6]]},"DOI":"10.1016\/j.ecl.2004.03.003","type":"journal-article","created":{"date-parts":[[2005,4,18]],"date-time":"2005-04-18T10:53:30Z","timestamp":1113821610000},"page":"305-331","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":110,"title":["Lipodystrophies: rare disorders causing metabolic syndrome"],"prefix":"10.1016","volume":"33","author":[{"given":"Abhimanyu","family":"Garg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anoop","family":"Misra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"19","key":"10.1016\/j.ecl.2004.03.003_BIB1","doi-asserted-by":"crossref","first-page":"2486","DOI":"10.1001\/jama.285.19.2486","article-title":"Executive summary of the third report of the national cholesterol education program expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (adult treatment panel III)","volume":"285","author":"National Cholesterol Education Program Expert Panel","year":"2001","journal-title":"JAMA"},{"issue":"2","key":"10.1016\/j.ecl.2004.03.003_BIB2","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0002-9343(99)00414-3","article-title":"Lipodystrophies","volume":"108","author":"Garg","year":"2000","journal-title":"Am J Med"},{"key":"10.1016\/j.ecl.2004.03.003_BIB3","series-title":"International textbook of diabetes mellitus","first-page":"655","article-title":"Lipodystrophies and diabetes","author":"Garg","year":"2004"},{"issue":"12","key":"10.1016\/j.ecl.2004.03.003_BIB4","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJMra025261","article-title":"Acquired and inherited lipodystrophies","volume":"350","author":"Garg","year":"2004","journal-title":"N Engl J Med"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB5","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1038\/ng585","article-title":"Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13","volume":"28","author":"Magre","year":"2001","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB6","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1210\/jc.2003-030415","article-title":"Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil","volume":"89","author":"Gomes","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"10.1016\/j.ecl.2004.03.003_BIB7","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/BF00241817","article-title":"The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy","volume":"21","author":"Fleckenstein","year":"1992","journal-title":"Skeletal Radiol"},{"key":"10.1016\/j.ecl.2004.03.003_BIB8","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1111\/j.1651-2227.1996.tb14262.x","article-title":"Generalized lipodystrophy, congenital and acquired (lipoatrophy)","volume":"413","author":"Seip","year":"1996","journal-title":"Acta Paediatr Suppl"},{"key":"10.1016\/j.ecl.2004.03.003_BIB9","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ng880","article-title":"AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34","volume":"31","author":"Agarwal","year":"2002","journal-title":"Nat Genet"},{"issue":"10","key":"10.1016\/j.ecl.2004.03.003_BIB10","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1136\/jmg.39.10.722","article-title":"Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy","volume":"39","author":"Van Maldergem","year":"2002","journal-title":"J Med Genet"},{"issue":"5","key":"10.1016\/j.ecl.2004.03.003_BIB11","doi-asserted-by":"crossref","first-page":"2395","DOI":"10.1210\/jcem.87.5.8624","article-title":"Serum adiponectin and leptin levels in patients with lipodystrophies","volume":"87","author":"Haque","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"10.1016\/j.ecl.2004.03.003_BIB12","doi-asserted-by":"crossref","first-page":"3390","DOI":"10.1210\/jcem.84.9.6103","article-title":"A gene for congenital generalized lipodystrophy maps to human chromosome 9q34","volume":"84","author":"Garg","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ecl.2004.03.003_BIB13","doi-asserted-by":"crossref","first-page":"d944","DOI":"10.2741\/Leung","article-title":"The structure and functions of human lysophosphatidic acid acyltransferases","volume":"6","author":"Leung","year":"2001","journal-title":"Front Biosci"},{"issue":"8","key":"10.1016\/j.ecl.2004.03.003_BIB14","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1007\/s10038-003-0045-z","article-title":"Cloning and identification of the human LPAAT-zeta gene, a novel member of the lysophosphatidic acid acyltransferase family","volume":"48","author":"Li","year":"2003","journal-title":"J Hum Genet"},{"issue":"5","key":"10.1016\/j.ecl.2004.03.003_BIB15","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/S1043-2760(03)00078-X","article-title":"Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways","volume":"14","author":"Agarwal","year":"2003","journal-title":"Trends Endocrinol Metab"},{"issue":"6","key":"10.1016\/j.ecl.2004.03.003_BIB16","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1089\/dna.1997.16.691","article-title":"Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells","volume":"16","author":"West","year":"1997","journal-title":"DNA Cell Biol"},{"issue":"32","key":"10.1016\/j.ecl.2004.03.003_BIB17","doi-asserted-by":"crossref","first-page":"20299","DOI":"10.1074\/jbc.272.32.20299","article-title":"Human lysophosphatidic acid acyltransferase: cDNA cloning, expression, and localization to chromosome 9q34.3","volume":"272","author":"Eberhardt","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ecl.2004.03.003_BIB18","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/978-1-4615-4793-8_51","article-title":"cDNA cloning, expression and chromosomal localization of two human lysophosphatidic acid acyltransferases","volume":"469","author":"Eberhardt","year":"1999","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.ecl.2004.03.003_BIB19","doi-asserted-by":"crossref","first-page":"4840","DOI":"10.1210\/jc.2003-030855","article-title":"Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy","volume":"88","author":"Agarwal","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ecl.2004.03.003_BIB20","doi-asserted-by":"crossref","first-page":"5433","DOI":"10.1210\/jc.2003-030835","article-title":"Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy due to mutations in the AGPAT2 or Seipin genes","volume":"88","author":"Simha","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.ecl.2004.03.003_BIB21","first-page":"358","article-title":"Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy","volume":"75","author":"Garg","year":"1992","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"10.1016\/j.ecl.2004.03.003_BIB22","first-page":"3077","article-title":"Postmortem findings in congenital generalized lipodystrophy","volume":"80","author":"Chandalia","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ecl.2004.03.003_BIB23","first-page":"533","article-title":"A new genetic variety of lipodystrophy","volume":"21","author":"Ozer","year":"1973","journal-title":"Clin Res"},{"issue":"169","key":"10.1016\/j.ecl.2004.03.003_BIB24","first-page":"33","article-title":"Familial lipoatrophic diabetes with dominant transmission: a new syndrome","volume":"43","author":"Dunnigan","year":"1974","journal-title":"Q J Med"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB25","first-page":"170","article-title":"Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)","volume":"84","author":"Garg","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"10.1016\/j.ecl.2004.03.003_BIB26","first-page":"1776","article-title":"Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)","volume":"85","author":"Garg","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ecl.2004.03.003_BIB27","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.2337\/diacare.26.5.1350","article-title":"Risk factors for diabetes mellitus in familial partial lipodystrophy, Dunnigan variety","volume":"26","author":"Haque","year":"2003","journal-title":"Diabetes Care"},{"issue":"18","key":"10.1016\/j.ecl.2004.03.003_BIB28","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.1161\/01.CIR.103.18.2225","article-title":"Premature atherosclerosis associated with monogenic insulin resistance","volume":"103","author":"Hegele","year":"2001","journal-title":"Circulation"},{"issue":"3","key":"10.1016\/j.ecl.2004.03.003_BIB29","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/ng0398-292","article-title":"Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21\u201322","volume":"18","author":"Peters","year":"1998","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB30","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1093\/hmg\/9.1.109","article-title":"Nuclear lamin A\/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy","volume":"9","author":"Cao","year":"2000","journal-title":"Hum Mol Genet"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB31","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1086\/302836","article-title":"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","volume":"66","author":"Speckman","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.ecl.2004.03.003_BIB32","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/72807","article-title":"LMNA, encoding lamin A\/C, is mutated in partial lipodystrophy","volume":"24","author":"Shackleton","year":"2000","journal-title":"Nat Genet"},{"issue":"11","key":"10.1016\/j.ecl.2004.03.003_BIB33","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.2337\/diabetes.49.11.1958","article-title":"Lamin A\/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy","volume":"49","author":"Vigouroux","year":"2000","journal-title":"Diabetes"},{"key":"10.1016\/j.ecl.2004.03.003_BIB34","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/S0002-9343(02)01070-7","article-title":"Multisystem dystrophy syndrome due to novel missense mutations in the amino terminal head and alpha-helical rod domain of the lamin A\/C (LMNA) gene","volume":"112","author":"Garg","year":"2002","journal-title":"Am J Med"},{"issue":"22","key":"10.1016\/j.ecl.2004.03.003_BIB35","doi-asserted-by":"crossref","first-page":"16321","DOI":"10.1016\/S0021-9258(19)85424-8","article-title":"Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C","volume":"268","author":"Lin","year":"1993","journal-title":"J Biol Chem"},{"issue":"17","key":"10.1016\/j.ecl.2004.03.003_BIB36","doi-asserted-by":"crossref","first-page":"6450","DOI":"10.1073\/pnas.83.17.6450","article-title":"cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins","volume":"83","author":"Fisher","year":"1986","journal-title":"Proc Natl Acad Sci USA"},{"issue":"8","key":"10.1016\/j.ecl.2004.03.003_BIB37","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nrm879","article-title":"Life at the edge: the nuclear envelope and human disease","volume":"3","author":"Burke","year":"2002","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB38","first-page":"59","article-title":"Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of mis-sense mutations in lamin A\/C (LMNA) gene","volume":"86","author":"Garg","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.ecl.2004.03.003_BIB39","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/6799","article-title":"Mutations in the gene encoding lamin A\/C cause autosomal dominant Emery-Dreifuss muscular dystrophy","volume":"21","author":"Bonne","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.ecl.2004.03.003_BIB40","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1086\/302869","article-title":"Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy","volume":"66","author":"di Barletta","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ecl.2004.03.003_BIB41","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1093\/hmg\/9.9.1453","article-title":"Identification of mutations in the gene encoding lamins A\/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)","volume":"9","author":"Muchir","year":"2000","journal-title":"Hum Mol Genet"},{"issue":"2","key":"10.1016\/j.ecl.2004.03.003_BIB42","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1086\/341908","article-title":"Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A\/C","volume":"71","author":"Novelli","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ecl.2004.03.003_BIB43","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/nature01629","article-title":"Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome","volume":"423","author":"Eriksson","year":"2003","journal-title":"Nature"},{"issue":"9382","key":"10.1016\/j.ecl.2004.03.003_BIB44","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/S0140-6736(03)14069-X","article-title":"LMNA mutations in atypical Werner's syndrome","volume":"362","author":"Chen","year":"2003","journal-title":"Lancet"},{"issue":"3","key":"10.1016\/j.ecl.2004.03.003_BIB45","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1086\/339274","article-title":"Homozygous defects in LMNA, encoding lamin A\/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse","volume":"70","author":"De Sandre-Giovannoli","year":"2002","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB46","first-page":"408","article-title":"A novel heterozygous mutation in peroxisome proliferator-activated receptor-\u03b3 gene in a patient with familial partial lipodystrophy","volume":"87","author":"Agarwal","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"10.1016\/j.ecl.2004.03.003_BIB47","doi-asserted-by":"crossref","first-page":"3586","DOI":"10.2337\/diabetes.51.12.3586","article-title":"PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy","volume":"51","author":"Hegele","year":"2002","journal-title":"Diabetes"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB48","doi-asserted-by":"crossref","first-page":"910","DOI":"10.2337\/diabetes.52.4.910","article-title":"Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-\u03b3","volume":"52","author":"Savage","year":"2003","journal-title":"Diabetes"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB49","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/S1097-2765(00)80211-7","article-title":"PPAR gamma is required for the differentiation of adipose tissue in vivo and in vitro","volume":"4","author":"Rosen","year":"1999","journal-title":"Mol Cell"},{"issue":"6","key":"10.1016\/j.ecl.2004.03.003_BIB50","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.2337\/diacare.26.6.1819","article-title":"Kobberling type of familial partial lipodystrophy: an underrecognized syndrome","volume":"26","author":"Herbst","year":"2003","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ecl.2004.03.003_BIB51","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1210\/jcem.87.2.8258","article-title":"Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia","volume":"87","author":"Simha","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"10.1016\/j.ecl.2004.03.003_BIB52","doi-asserted-by":"crossref","first-page":"2821","DOI":"10.1210\/jc.2002-021575","article-title":"Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy","volume":"88","author":"Simha","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"issue":"16","key":"10.1016\/j.ecl.2004.03.003_BIB53","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1093\/hmg\/ddg213","article-title":"Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia","volume":"12","author":"Agarwal","year":"2003","journal-title":"Hum Mol Genet"},{"issue":"Pt 1","key":"10.1016\/j.ecl.2004.03.003_BIB54","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1242\/jcs.107.1.61","article-title":"The processing pathway of prelamin A","volume":"107","author":"Sinensky","year":"1994","journal-title":"J Cell Sci"},{"key":"10.1016\/j.ecl.2004.03.003_BIB55","first-page":"423","article-title":"CC: a low birthweight syndrome, Rieger syndrome","volume":"11","author":"Sensenbrenner","year":"1975","journal-title":"Birth Defects"},{"key":"10.1016\/j.ecl.2004.03.003_BIB56","first-page":"46","article-title":"Rieger anomaly and growth retardation (the S-H-O-R-T syndrome)","volume":"11","author":"Gorlin","year":"1975","journal-title":"Birth Defects"},{"issue":"2","key":"10.1016\/j.ecl.2004.03.003_BIB57","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<178::AID-AJMG16>3.0.CO;2-R","article-title":"SHORT syndrome: a new case with probable autosomal dominant inheritance","volume":"61","author":"Sorge","year":"1996","journal-title":"Am J Med Genet"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB58","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1097\/00019605-199510000-00005","article-title":"Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?","volume":"4","author":"Bankier","year":"1995","journal-title":"Clin Dysmorphol"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB59","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajmg.1320150104","article-title":"Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes","volume":"15","author":"Aarskog","year":"1983","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ecl.2004.03.003_BIB60","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/BF00477545","article-title":"Progeria: a cell culture study and clinical report of familial incidence","volume":"124","author":"Rautenstrauch","year":"1971","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ecl.2004.03.003_BIB61","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00441901","article-title":"An unidentified neonatal progeroid syndrome: follow-up report","volume":"130","author":"Wiedemann","year":"1979","journal-title":"Eur J Pediatr"},{"issue":"2","key":"10.1016\/j.ecl.2004.03.003_BIB62","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<131::AID-AJMG9>3.0.CO;2-E","article-title":"Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review","volume":"90","author":"Pivnick","year":"2000","journal-title":"Am J Med Genet"},{"issue":"2","key":"10.1016\/j.ecl.2004.03.003_BIB63","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/ajmg.1530","article-title":"Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts","volume":"103","author":"Korniszewski","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ecl.2004.03.003_BIB64","first-page":"503","article-title":"Leptin levels, beta-cell function, and insulin sensitivity in families with congenital and acquired generalized lipoatrophic diabetes","volume":"83","author":"Pardini","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.ecl.2004.03.003_BIB65","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1210\/jc.2002-021506","article-title":"A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy","volume":"88","author":"Caux","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ecl.2004.03.003_BIB66","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1093\/brain\/51.2.147","article-title":"Lipodystrophies: report of seven cases","volume":"51","author":"Ziegler","year":"1928","journal-title":"Brain"},{"key":"10.1016\/j.ecl.2004.03.003_BIB67","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1016\/S0140-6736(46)90528-4","article-title":"Lipodystrophy and hepatomegaly with diabetes, lipemia, and other metabolic disturbances","volume":"1","author":"Lawrence","year":"1946","journal-title":"Lancet"},{"key":"10.1016\/j.ecl.2004.03.003_BIB68","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/00005792-200303000-00007","article-title":"Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature","volume":"82","author":"Misra","year":"2003","journal-title":"Medicine"},{"issue":"8","key":"10.1016\/j.ecl.2004.03.003_BIB69","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/0026-0495(92)90173-8","article-title":"Generalized lipodystrophy: in vivo evidence for hypermetabolism and insulin-resistant lipid, glucose, and amino acid kinetics","volume":"41","author":"Klein","year":"1992","journal-title":"Metabolism"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB70","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/j.1532-5415.1977.tb00288.x","article-title":"The renal lesion associated with total lipodystrophy","volume":"25","author":"Saito","year":"1977","journal-title":"J Am Geriatr Soc"},{"issue":"2","key":"10.1016\/j.ecl.2004.03.003_BIB71","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.1365-2265.1973.tb00411.x","article-title":"Partial and total lipodystrophy: changes in circulating sugar, free fatty acids, insulin and growth hormone following the administration of glucose and of insulin","volume":"2","author":"Boucher","year":"1973","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB72","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1210\/jcem.87.1.8176","article-title":"Intensive, long-term plasma exchange therapy for severe hypertriglyceridemia in acquired generalized lipoatrophy","volume":"87","author":"Bolan","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"7","key":"10.1016\/j.ecl.2004.03.003_BIB73","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1007\/BF02942157","article-title":"Progression from partial to generalised lipodystrophy: a case report","volume":"161","author":"Bourke","year":"1992","journal-title":"Ir J Med Sci"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB74","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1055\/s-0029-1211955","article-title":"Dysregulation of insulin-like growth factors in a case of generalized acquired lipoatrophic diabetes mellitus (Lawrence syndrome) connected with autoantibodies against adipocyte membranes","volume":"106","author":"Hubler","year":"1998","journal-title":"Exp Clin Endocrinol Diabetes"},{"issue":"3","key":"10.1016\/j.ecl.2004.03.003_BIB75","first-page":"610","article-title":"Lipodystrophy in patients with juvenile dermatomyositis: evaluation of clinical and metabolic abnormalities","volume":"28","author":"Huemer","year":"2001","journal-title":"J Rheumatol"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB76","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/0026-0495(85)90222-7","article-title":"Insulin resistance in total lipodystrophy: evidence for a pre-receptor defect in insulin action","volume":"34","author":"Golden","year":"1985","journal-title":"Metabolism"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB77","doi-asserted-by":"crossref","first-page":"381","DOI":"10.2337\/diacare.7.4.381","article-title":"Recurrent ketoacidosis in acquired, total lipodystrophy (lipoatrophic diabetes)","volume":"7","author":"Robbins","year":"1984","journal-title":"Diabetes Care"},{"issue":"8","key":"10.1016\/j.ecl.2004.03.003_BIB78","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.2337\/diacare.22.8.1374","article-title":"Late-onset lipoatrophic diabetes: phenotypic and genotypic familial studies and effect of treatment with metformin and lispro insulin analog","volume":"22","author":"Vantyghem","year":"1999","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ecl.2004.03.003_BIB79","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1097\/01.md.0000111061.69212.59","article-title":"Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature","volume":"83","author":"Misra","year":"2004","journal-title":"Medicine"},{"issue":"3","key":"10.1016\/j.ecl.2004.03.003_BIB80","first-page":"425","article-title":"Identification of nephritic factor as an immunoglobulin","volume":"33","author":"Williams","year":"1978","journal-title":"Clin Exp Immunol"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB81","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1007\/s004670050241","article-title":"C3 nephritic factor and mesangiocapillary glomerulonephritis","volume":"11","author":"Williams","year":"1997","journal-title":"Pediatr Nephrol"},{"issue":"6","key":"10.1016\/j.ecl.2004.03.003_BIB82","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1016\/S0272-6386(12)81069-9","article-title":"Are nephritic factors nephritogenic?","volume":"24","author":"Mathieson","year":"1994","journal-title":"Am J Kidney Dis"},{"issue":"11","key":"10.1016\/j.ecl.2004.03.003_BIB83","doi-asserted-by":"crossref","first-page":"4845","DOI":"10.1210\/jc.2002-020794","article-title":"Lipodystrophy in human immunodeficiency virus-infected patients","volume":"87","author":"Chen","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.ecl.2004.03.003_BIB84","doi-asserted-by":"crossref","first-page":"F25","DOI":"10.1097\/00002030-200002180-00001","article-title":"A syndrome of lipoatrophy, lactic acidaemia and liver dysfunction associated with HIV nucleoside analogue therapy: contribution to protease inhibitor-related lipodystrophy syndrome","volume":"14","author":"Carr","year":"2000","journal-title":"AIDS"},{"issue":"5","key":"10.1016\/j.ecl.2004.03.003_BIB85","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S0953-6205(00)00103-5","article-title":"Atherogenic lipid profile in HIV-1-infected patients with lipodystrophy syndrome","volume":"11","author":"Mercie","year":"2000","journal-title":"Eur J Intern Med"},{"issue":"9106","key":"10.1016\/j.ecl.2004.03.003_BIB86","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1016\/S0140-6736(97)11518-5","article-title":"Visceral abdominal-fat accumulation associated with use of indinavir","volume":"351","author":"Miller","year":"1998","journal-title":"Lancet"},{"issue":"6","key":"10.1016\/j.ecl.2004.03.003_BIB87","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1093\/ajcn\/69.6.1162","article-title":"Fat distribution in HIV-infected patients reporting truncal enlargement quantified by whole-body magnetic resonance imaging","volume":"69","author":"Engelson","year":"1999","journal-title":"Am J Clin Nutr"},{"issue":"6","key":"10.1016\/j.ecl.2004.03.003_BIB88","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1097\/00002030-199904160-00020","article-title":"Lipodystrophy in patients naive to HIV protease inhibitors","volume":"13","author":"Madge","year":"1999","journal-title":"AIDS"},{"issue":"9170","key":"10.1016\/j.ecl.2004.03.003_BIB89","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1016\/S0140-6736(98)08468-2","article-title":"Diagnosis, prediction, and natural course of HIV-1 protease-inhibitor-associated lipodystrophy, hyperlipidaemia, and diabetes mellitus: a cohort study","volume":"353","author":"Carr","year":"1999","journal-title":"Lancet"},{"issue":"3","key":"10.1016\/j.ecl.2004.03.003_BIB90","first-page":"261","article-title":"Serum triglycerides, HIV infection, and highly active antiretroviral therapy","volume":"23","author":"Thiebaut","year":"2000","journal-title":"J Acquir Immune Defic Syndr"},{"issue":"7","key":"10.1016\/j.ecl.2004.03.003_BIB91","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1161\/01.CIR.100.7.700","article-title":"Atherogenic dyslipidemia in HIV-infected individuals treated with protease inhibitors","volume":"100","author":"Periard","year":"1999","journal-title":"Circulation"},{"issue":"15","key":"10.1016\/j.ecl.2004.03.003_BIB92","doi-asserted-by":"crossref","first-page":"F167","DOI":"10.1097\/00002030-199815000-00001","article-title":"Treatment with protease inhibitors associated with peripheral insulin resistance and impaired oral glucose tolerance in HIV-1-infected patients","volume":"12","author":"Walli","year":"1998","journal-title":"AIDS"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB93","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1097\/00126334-200012010-00004","article-title":"Association of severe insulin resistance with both loss of limb fat and elevated serum tumor necrosis factor receptor levels in HIV lipodystrophy","volume":"25","author":"Mynarcik","year":"2000","journal-title":"J Acquir Immune Defic Syndr"},{"issue":"9079","key":"10.1016\/j.ecl.2004.03.003_BIB94","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/S0140-6736(05)63513-1","article-title":"Protease inhibitor-associated hyperglycaemia","volume":"350","author":"Dube","year":"1997","journal-title":"Lancet"},{"issue":"5","key":"10.1016\/j.ecl.2004.03.003_BIB95","doi-asserted-by":"crossref","first-page":"F1","DOI":"10.1097\/00002030-200203290-00002","article-title":"Indinavir acutely inhibits insulin-stimulated glucose disposal in humans: a randomized, placebo-controlled study","volume":"16","author":"Noor","year":"2002","journal-title":"AIDS"},{"issue":"7","key":"10.1016\/j.ecl.2004.03.003_BIB96","doi-asserted-by":"crossref","first-page":"F11","DOI":"10.1097\/00002030-200105040-00001","article-title":"Metabolic effects of indinavir in healthy HIV-seronegative men","volume":"15","author":"Noor","year":"2001","journal-title":"AIDS"},{"issue":"27","key":"10.1016\/j.ecl.2004.03.003_BIB97","doi-asserted-by":"crossref","first-page":"20251","DOI":"10.1074\/jbc.C000228200","article-title":"The mechanism of insulin resistance caused by HIV protease inhibitor therapy","volume":"275","author":"Murata","year":"2000","journal-title":"J Biol Chem"},{"issue":"6","key":"10.1016\/j.ecl.2004.03.003_BIB98","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1097\/00002030-200204120-00005","article-title":"Indinavir inhibits the glucose transporter isoform Glut4 at physiologic concentrations","volume":"16","author":"Murata","year":"2002","journal-title":"AIDS"},{"issue":"5","key":"10.1016\/j.ecl.2004.03.003_BIB99","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1177\/135965350300800509","article-title":"Intracellular disposition and metabolic effects of zidovudine, stavudine and four protease inhibitors in cultured adipocytes","volume":"8","author":"Janneh","year":"2003","journal-title":"Antivir Ther"},{"issue":"40","key":"10.1016\/j.ecl.2004.03.003_BIB100","doi-asserted-by":"crossref","first-page":"37514","DOI":"10.1074\/jbc.M104557200","article-title":"HIV protease inhibitor induces fatty acid and sterol biosynthesis in liver and adipose tissues due to the accumulation of activated sterol regulatory element-binding proteins in the nucleus","volume":"276","author":"Riddle","year":"2001","journal-title":"J Biol Chem"},{"issue":"20","key":"10.1016\/j.ecl.2004.03.003_BIB101","doi-asserted-by":"crossref","first-page":"3182","DOI":"10.1101\/gad.12.20.3182","article-title":"Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy","volume":"12","author":"Shimomura","year":"1998","journal-title":"Genes Dev"},{"issue":"5 Pt 1","key":"10.1016\/j.ecl.2004.03.003_BIB102","first-page":"E977","article-title":"Measurement of intracellular triglyceride stores by 1H spectroscopy: validation in vivo","volume":"276","author":"Szczepaniak","year":"1999","journal-title":"Am J Physiol"},{"key":"10.1016\/j.ecl.2004.03.003_BIB103","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1046\/j.1464-5491.2002.00796.x","article-title":"Post-mortem findings in familial partial lipodystrophy, Dunnigan variety","volume":"19","author":"Haque","year":"2002","journal-title":"Diabet Med"},{"issue":"15","key":"10.1016\/j.ecl.2004.03.003_BIB104","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1097\/00002030-200110190-00021","article-title":"Short-term exercise training improves body composition and hyperlipidaemia in HIV-positive individuals with lipodystrophy","volume":"15","author":"Jones","year":"2001","journal-title":"AIDS"},{"issue":"11","key":"10.1016\/j.ecl.2004.03.003_BIB105","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1097\/00002030-199907300-00015","article-title":"A pilot study of exercise training to reduce trunk fat in adults with HIV-associated fat redistribution","volume":"13","author":"Roubenoff","year":"1999","journal-title":"AIDS"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB106","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1001\/jama.284.4.472","article-title":"Metformin in the treatment of HIV lipodystrophy syndrome: a randomized controlled trial","volume":"284","author":"Hadigan","year":"2000","journal-title":"JAMA"},{"issue":"4","key":"10.1016\/j.ecl.2004.03.003_BIB107","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1097\/00002030-200203080-00008","article-title":"Pharmacokinetic interactions between protease inhibitors and statins in HIV seronegative volunteers: ACTG study A5047","volume":"16","author":"Fichtenbaum","year":"2002","journal-title":"AIDS"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB108","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1007\/s15010-001-2052-3","article-title":"Use of fibrates in the management of hyperlipidemia in HIV-infected patients receiving HAART","volume":"30","author":"Calza","year":"2002","journal-title":"Infection"},{"issue":"1","key":"10.1016\/j.ecl.2004.03.003_BIB109","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1006\/taap.1996.8007","article-title":"Hepatic microsomal enzyme induction, beta-oxidation, and cell proliferation following administration of clofibrate, gemfibrozil, or bezafibrate in the Cd rat","volume":"142","author":"Amacher","year":"1997","journal-title":"Toxicol Appl Pharmacol"},{"key":"10.1016\/j.ecl.2004.03.003_BIB110","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1001\/jama.1990.03450060069031","article-title":"Nicotinic acid as therapy for dyslipidemia in non-insulin-dependent diabetes mellitus","volume":"264","author":"Garg","year":"1990","journal-title":"JAMA"},{"issue":"14","key":"10.1016\/j.ecl.2004.03.003_BIB111","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1097\/00002030-200109280-00010","article-title":"HIV protease inhibitor substitution in patients with lipodystrophy: a randomized, controlled, open-label, multicentre study","volume":"15","author":"Carr","year":"2001","journal-title":"AIDS"},{"issue":"7","key":"10.1016\/j.ecl.2004.03.003_BIB112","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1097\/00002030-199905070-00009","article-title":"Reversion of metabolic abnormalities after switching from HIV-1 protease inhibitors to nevirapine","volume":"13","author":"Martinez","year":"1999","journal-title":"AIDS"},{"issue":"8","key":"10.1016\/j.ecl.2004.03.003_BIB113","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1056\/NEJMoa012437","article-title":"Leptin-replacement therapy for lipodystrophy","volume":"346","author":"Oral","year":"2002","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ecl.2004.03.003_BIB114","doi-asserted-by":"crossref","first-page":"30","DOI":"10.2337\/diacare.26.1.30","article-title":"Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy","volume":"26","author":"Simha","year":"2003","journal-title":"Diabetes Care"},{"issue":"10","key":"10.1016\/j.ecl.2004.03.003_BIB115","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1172\/JCI0215001","article-title":"Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy","volume":"109","author":"Petersen","year":"2002","journal-title":"J Clin Invest"}],"container-title":["Endocrinology and Metabolism Clinics of North America"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0889852904000209?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0889852904000209?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:18:36Z","timestamp":1760174316000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0889852904000209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6]]},"references-count":115,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["S0889852904000209"],"URL":"https:\/\/doi.org\/10.1016\/j.ecl.2004.03.003","relation":{},"ISSN":["0889-8529"],"issn-type":[{"value":"0889-8529","type":"print"}],"subject":[],"published":{"date-parts":[[2004,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lipodystrophies: rare disorders causing metabolic syndrome","name":"articletitle","label":"Article Title"},{"value":"Endocrinology and Metabolism Clinics of North America","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ecl.2004.03.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2004 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}