The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.
Differential diagnosis of familial high density lipoprotein deficiency syndromes
Abstract
Monogenic high density lipoprotein (HDL) deficiency, because of defects in the genes of apolipoprotein A-I (apoA-I), adenosine triphosphate binding cassette transporter A1 (ABCA1) or lecithin:cholesterol acyltransferase (LCAT), can be assumed in patients with HDL cholesterol levels below the fifth percentile within a given population. As in a first step underlying diseases should be excluded. Patients with a virtual absence of HDL must undergo careful physical examination to unravel the clinical hallmarks of certain HDL deficiency syndromes. In addition, family studies should be initiated, to demonstrate the vertical transmission of the low HDL cholesterol phenotype. Definitive diagnosis requires specialized biochemical tests and the demonstration of a functionally-relevant mutation in one of the three discussed candidate genes. As yet no routinely used drug is able to increase HDL cholesterol levels in patients with familial low HDL cholesterol so that prevention of cardiovascular disease in these patients must be focused on the avoidance and treatment of additional risk factors.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
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?
In the citing paper
“According to the results from Danish and American population studies, approximately 10% of individuals with HDL-C levels below the 5th percentile are heterozygous for mutations in the genes of APOA1, ABCA1 or LCAT [28, 29].”
From HDL cholesterol: reappraisal of its clinical relevance (2017) · cites this paper as [29]
Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., et al. (1999) · Nature Genetics · doi:10.1038/11905 · Cited by 1,687
Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol
Cohen, J. C., Kiss, R. S., Pertsemlidis, A., Marcel, Y. L., McPherson, R., & Hobbs, H. H. (2004) · Science · doi:10.1126/science.1099870 · Cited by 1,108
High Density Lipoproteins and Arteriosclerosis
von Eckardstein, A., Nofer, J., & Assmann, G. (2001) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.21.1.13 · Cited by 696
Familial lipoprotein disorders in patients with premature coronary artery disease.
Genest, J. J., Martin-Munley, S., McNamara, J. R., Ordovás, J. M., Jenner, J. L., Myers, R. H., Silberman, S. R., Wilson, P. W., Salem, D. N., & Schaefer, E. J. (1992) · Circulation · doi:10.1161/01.cir.85.6.2025 · Cited by 598
Lecithin cholesterol acyltransferase
Jonas, A. (2000) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/s1388-1981(00)00153-0 · Cited by 477
The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
Kuivenhoven, J. A., Pritchard, H., Hill, J. S., Frohlich, J., Assmann, G., & Kastelein, J. J. P. (1997) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)37433-2 · Cited by 364
Clee, S. M., Kastelein, J. J. P., van Dam, M., Marcil, M., Roomp, K., Zwarts, K. Y., Collins, J. A., Roelants, R. J., Tamasawa, N., Štulc, T., et al. (2000) · Journal of Clinical Investigation · doi:10.1172/jci10727 · Cited by 314
Wang, N., & Tall, A. R. (2003) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000075912.83860.26 · Cited by 261
Cited by
Sorted by citations
European guidelines on cardiovascular disease prevention in clinical practice: executive summary
Graham, I., Atar, D., Borch‐Johnsen, K., Boysen, G., Burell, G. K., Cífková, R., Dallongeville, J., Backer, G. D., Ebrahim, S. B. J., Gjelsvik, B., et al. (2007) · European Heart Journal · doi:10.1093/eurheartj/ehm316 · Cited by 3,865
Graham (2007) · doi:10.1097/01.hjr.0000277983.23934.c9 · Cited by 1,647
European guidelines on cardiovascular disease prevention in clinical practice: Executive summary
Graham, I. M. (2007) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2007.08.024 · Cited by 716
Graham, I. D., Atar, D., Borch‐Johnsen, K., Boysen, G., Burell, G. K., Cífková, R., Dallongeville, J., Backer, G. D., Ebrahim, S. B. J., Gjelsvik, B., et al. (2007) · European Journal of Cardiovascular Prevention & Rehabilitation · doi:10.1097/01.hjr.0000277984.31558.c4 · Cited by 299
HDL cholesterol: reappraisal of its clinical relevance
März, W., Kleber, M. E., Scharnagl, H., Speer, T., Zewinger, S., Ritsch, A., Parhofer, K. G., von Eckardstein, A., Landmesser, U., & Laufs, U. (2017) · Clinical Research in Cardiology · doi:10.1007/s00392-017-1106-1 · Cited by 275
Metadata
- Authors
- von Eckardstein, A.
- Venue
- Atherosclerosis
- Publisher
- Elsevier BV
- Published
- 2006-06
- Volume
- 186
- Issue
- 2
- Pages
- 231-239
- ISSN
- 0021-9150 (ISSN-L)
- OpenAlex
- W2160550927
- Cited by
- 112
- References
- 50
- Citations by year
- 2024: 2 · 2023: 3 · 2022: 2 · 2021: 5 · 2020: 3 · 2019: 4 · 2018: 7 · 2017: 6 · 2016: 3 · 2015: 3 · 2014: 5 · 2013: 5 · 2012: 6
- FWCI
- 1.74
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Atherosclerosis (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Cholesterol and Lipid Metabolism
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- apolipoprotein A-I, ABCA1, lecithin:cholesterol acyltransferase, low HDL cholesterol, differential diagnosis, vertical transmission, genetic mutations, cardiovascular disease prevention, cardiovascular risk factors
- MeSH terms
- Diagnosis, Differential, Humans, Hypolipoproteinemias, Cholesterol, HDL, Syndrome, Dyslipidemias
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
