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Page 1
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T. Brown RJ, et al. J Clin Endocrinol Metab. 2016 Dec;101(12):4500-4511. doi: 10.1210/jc.2016-2466. Epub 2016 Oct 6. J Clin Endocrinol Metab. 2016. PMID: 27710244 Free PMC article. Review.
Metreleptin therapy is effective for metabolic complications in hypoleptinemic patients with generalized lipodystrophy and selected patients with partial lipodystrophy. Other treatments not specific for lipodystrophy may be helpful as well (eg, metformin for diabete …
Metreleptin therapy is effective for metabolic complications in hypoleptinemic patients with generalized lipodystrophy and selected patients …
Lipodystrophy for the Diabetologist-What to Look For.
Patni N, Garg A. Patni N, et al. Curr Diab Rep. 2022 Sep;22(9):461-470. doi: 10.1007/s11892-022-01485-w. Epub 2022 Jul 11. Curr Diab Rep. 2022. PMID: 35821558 Free PMC article. Review.
RECENT FINDINGS: The four major subtypes are autosomal recessive, congenital generalized lipodystrophy (CGL); acquired generalized lipodystrophy (AGL), mostly an autoimmune disorder; autosomal dominant or recessive familial partial lipodystrophy (FPLD); and acquired …
RECENT FINDINGS: The four major subtypes are autosomal recessive, congenital generalized lipodystrophy (CGL); acquired generalized lipodystr …
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C, Fernández-Pombo A, Sánchez-Iglesias S, Araújo-Vilar D. Guillín-Amarelle C, et al. Nucleus. 2018 Jan 1;9(1):249-260. doi: 10.1080/19491034.2018.1454167. Nucleus. 2018. PMID: 29557732 Free PMC article. Review.
Those disorders in which adipose tissue is affected are called laminopathic lipodystrophies and include type 2 familial partial lipodystrophy and certain premature aging syndromes. This work summarizes the main clinical features of these syndromes, their associated …
Those disorders in which adipose tissue is affected are called laminopathic lipodystrophies and include type 2 familial partial li
Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras Á, Araújo-Vilar D. Fernández-Pombo A, et al. Presse Med. 2021 Nov;50(3):104071. doi: 10.1016/j.lpm.2021.104071. Epub 2021 Oct 2. Presse Med. 2021. PMID: 34610417 Review.
Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are the familial partial lipodystrophy (FPLD) syndromes, which include a set of disorders, usually autosomal dominant, due to different pa …
Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are the fami …
C3 nephritic factors: A changing landscape.
Levy Erez D, Meyers KE, Sullivan KE. Levy Erez D, et al. J Allergy Clin Immunol. 2017 Jul;140(1):57-59. doi: 10.1016/j.jaci.2017.02.018. Epub 2017 Mar 16. J Allergy Clin Immunol. 2017. PMID: 28322851 Free PMC article. No abstract available.
Approach to the Patient With Lipodystrophy.
Fourman LT, Grinspoon SK. Fourman LT, et al. J Clin Endocrinol Metab. 2022 May 17;107(6):1714-1726. doi: 10.1210/clinem/dgac079. J Clin Endocrinol Metab. 2022. PMID: 35137140 Free PMC article.
In this article, we provide an overview of the etiology and management of generalized and partial lipodystrophy disorders. We bring together the latest scientific evidence and clinical guidelines and expose key gaps in knowledge. ...
In this article, we provide an overview of the etiology and management of generalized and partial lipodystrophy disorders. We …
Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain.
Fernández-Pombo A, Sánchez-Iglesias S, Castro-Pais AI, Ginzo-Villamayor MJ, Cobelo-Gómez S, Prado-Moraña T, Díaz-López EJ, Casanueva FF, Loidi L, Araújo-Vilar D. Fernández-Pombo A, et al. Front Endocrinol (Lausanne). 2023 Nov 16;14:1250203. doi: 10.3389/fendo.2023.1250203. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38034001 Free PMC article.
The aim of this study was to assess the natural course and comorbidities of generalised and partial lipodystrophy in Spain to contribute to their understanding. ...The onset of phenotype occurred during childhood in generalised lipodystrophy and during adolescence-a …
The aim of this study was to assess the natural course and comorbidities of generalised and partial lipodystrophy in Spain to …
An overview of lipodystrophy and the role of the complement system.
Corvillo F, Akinci B. Corvillo F, et al. Mol Immunol. 2019 Aug;112:223-232. doi: 10.1016/j.molimm.2019.05.011. Epub 2019 Jun 6. Mol Immunol. 2019. PMID: 31177059 Review.
Complement over-activation has been reported in most of the patients with acquired partial lipodystrophy (also called Barraquer-Simons Syndrome) and in some cases of the generalized variety of the disease (Lawrence Syndrome). ...
Complement over-activation has been reported in most of the patients with acquired partial lipodystrophy (also called Barraque …
Lipodystrophies.
Garg A. Garg A. Am J Med. 2000 Feb;108(2):143-52. doi: 10.1016/s0002-9343(99)00414-3. Am J Med. 2000. PMID: 11126308 Review.
Recently, a gene for congenital generalized lipodystrophy was localized to chromosome 9q34, and a gene for familial partial lipodystrophy, Dunnigan type, to chromosome 1q21-22; the genes, however, remain to be identified. Patients with acquired generalized lipodystr …
Recently, a gene for congenital generalized lipodystrophy was localized to chromosome 9q34, and a gene for familial partial lipody
Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
Gosseaume C, Fournier T, Jéru I, Vignaud ML, Missotte I, Archambeaud F, Debussche X, Droumaguet C, Fève B, Grillot S, Guerci B, Hieronimus S, Horsmans Y, Nobécourt E, Pienkowski C, Poitou C, Thissen JP, Lascols O, Degrelle S, Tsatsaris V, Vigouroux C, Vatier C. Gosseaume C, et al. Eur J Endocrinol. 2023 Mar 2;188(3):lvad023. doi: 10.1093/ejendo/lvad023. Eur J Endocrinol. 2023. PMID: 36806620
Among heterozygous patients aged 16 or more (n = 24), 92% had diabetes, 96% partial lipodystrophy (median age at diagnosis 24 and 37 years), 78% hypertriglyceridaemia, 71% liver steatosis, and 58% hypertension. ...
Among heterozygous patients aged 16 or more (n = 24), 92% had diabetes, 96% partial lipodystrophy (median age at diagnosis 24 …
196 results