The DOI matches its Crossref record; 28 of the 29 references it cites were found in a registry or an index.
Köbberling Type of Familial Partial Lipodystrophy
Open accessAbstract
OBJECTIVE: The phenotypic expression of partial lipodystrophy is present in two familial syndromes: familial partial lipodystrophy type 1 (FPLD1), with fat loss from the extremities, and central obesity and FPLD type 2, with fat loss from the extremities, abdomen, and thorax. The latter disorder is associated with mutations in the LMNA gene. FPLD1 is thought to be rare. Here, we report 13 subjects with FPLD1, suggesting that this syndrome is more common than previously thought. RESEARCH DESIGN AND METHODS: Fasting glucose, plasma lipids, leptin, HbA(1c), and anthropomorphic measurements were evaluated in 13 subjects with clinical features of FPLD1 and are compared with two age-matched control groups, with and without diabetes. RESULTS: Only women with clinical features of FPLD1 have been identified. Although they lack extremity and gluteal subcutaneous fat, they do have truncal obesity. Skinfold thickness on the arm and leg was significantly less than that in control subjects. The ratio of skinfold thickness from abdomen to thigh was significantly higher in subjects, suggesting an easy method for identifying affected patients. FPLD1 subjects also had components of the metabolic syndrome, including hypertension, insulin resistance, and severe hypertriglyceridemia resulting in pancreatitis. Premature coronary artery disease was present in 31% of subjects. None of the subjects had coding mutations in the LMNA gene or in the gene coding for peroxisome proliferator-activated receptor (PPAR)-gamma. CONCLUSIONS: FPLD1 is more common than previously described, but the diagnosis is often missed. Early recognition and intensive treatment of hyperlipidemia and diabetes in FPLD1 is important for prevention of pancreatitis and early cardiovascular disease.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Varieties of familial partial lipodystrophy, which are rare autosomal disorders, involve fat loss from the extremities more than the trunk.The Kobberling variety is more common, but the defect is unknown (97).”
From Evaluation and Treatment of Hypertriglyceridemia: An Endocrine Society Clinical Practice Guideline (2012) · cites this paper as [97]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Nuclear Lamins: Their Structure, Assembly, and Interactions
Stuurman, N., Heins, S., & Aebi, U. (1998) · Journal of Structural Biology · doi:10.1006/jsbi.1998.3987 · Cited by 726
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
Shackleton, S., Lloyd, D. J., Jackson, S. N. J., Evans, R. S., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G. E., Kumar, S., Durrington, P. N., et al. (2000) · Nature Genetics · doi:10.1038/72807 · Cited by 701
Cao, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.1.109 · Cited by 668
Cnop, M., Landchild, M. J., Vidal, J., Havel, P. J., Knowles, N. G., Carr, D. R., Wang, F., Hull, R. L., Boyko, E. J., Retzlaff, B. M., et al. (2002) · Diabetes · doi:10.2337/diabetes.51.4.1005 · Cited by 432
American Diabetes Association: clinical practice recommendations 1996.
(1996) · PubMed · Cited by 428
Garg, A. (2000) · The American Journal of Medicine · doi:10.1016/s0002-9343(99)00414-3 · Cited by 375
Speckman, R. A., Garg, A., Du, F., Bennett, L. B., Veile, R. A., Oral, E. A., Taylor, S. I., Lovett, M., & Bowcock, A. M. (2000) · The American Journal of Human Genetics · doi:10.1086/302836 · Cited by 273
Agarwal, A. K., & Garg, A. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.1.8290 · Cited by 269
PPARG F388L, a Transactivation-Deficient Mutant, in Familial Partial Lipodystrophy
Hegele, R. A., Cao, H., Frankowski, C., Mathews, S. T., & Leff, T. (2002) · Diabetes · doi:10.2337/diabetes.51.12.3586 · Cited by 263
Meirhaeghe, A. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.435 · Cited by 207
Research works printed but not linked: 1
- Savage DB, Acerine C, Jebb S, Cinti S, Dixon A, Umpleby M, Vidal-Puig A, O’Rahilly S: Insight into the physiological effects of PPARg from humans with dominant negative mutations. In Proceedings of the First International Workshop on Lipoatrophic Diabetes. Bethesda, MD, Office of Rare Diseases, National Institutes of Health, 2001, p. 53
Cited by
Sorted by citations
Acquired and Inherited Lipodystrophies
Garg, A. (2004) · New England Journal of Medicine · doi:10.1056/nejmra025261 · Cited by 940
Evaluation and Treatment of Hypertriglyceridemia: An Endocrine Society Clinical Practice Guideline
Berglund, L., Brunzell, J. D., Goldberg, A. C., Goldberg, I. J., Sacks, F., Murad, M. H., & Stalenhoef, A. F. H. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-3213 · Cited by 887
Self-citationLotta, L. A., Gulati, P., Day, F. R., Payne, F., Ongen, H., van de Bunt, M., Gaulton, K. J., Eicher, J. D., Sharp, S. J., Luan, J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3714 · Cited by 599
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline
Brown, R. J., Araújo‐Vilar, D., Cheung, P. T., Dunger, D. B., Garg, A., Jack, M., Mungai, L., Oral, E. A., Patni, N., Rother, K. I., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-2466 · Cited by 540
Rare adipose disorders (RADs) masquerading as obesity
Herbst, K. L. (2012) · Acta Pharmacologica Sinica · doi:10.1038/aps.2011.153 · Cited by 272
Self-citation
Metadata
- Authors
- Herbst, K. L., Tannock, L. R., Deeb, S. S., Purnell, J. Q., Brunzell, J. D., & Chait, A.
- Affiliations
- University of Washington (US)
- Oregon Health & Science University (US)
- Venue
- Diabetes Care
- Publisher
- American Diabetes Association
- Published
- 2003-06-01
- Volume
- 26
- Issue
- 6
- Pages
- 1819-1824
- ISSN
- 0149-5992 (ISSN-L)
- 1935-5548
- OpenAlex
- W2086501247
- Cited by
- 119
- References
- 29
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 6 · 2023: 3 · 2022: 9 · 2021: 4 · 2020: 7 · 2019: 8 · 2018: 7 · 2017: 8 · 2016: 4 · 2015: 8 · 2014: 2 · 2013: 5 · 2012: 7
- FWCI
- 2.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Diabetes Care (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (P01-DK 17047, DK02689-04, T32-DK-07247, K23DK002689, P30DK017047, T32DK007247)
- National Center for Research Resources (M01-RR 00037, M01RR000037)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- LMNA gene, abdominal obesity, skinfold thickness, hypertriglyceridemia, pancreatitis, insulin resistance, metabolic syndrome, coronary artery disease, diabetes mellitus, PPARγ
- MeSH terms
- Anthropometry, Body Composition, Exons, Female, Humans, Lipodystrophy, Obesity, Skinfold Thickness, Syndrome, Transcription Factors, Washington, Receptors, Cytoplasmic and Nuclear, Leptin, Lamin Type A, White People
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
