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Tangier Disease
Donald S. Fredrickson, PAUL H. ALTROCCHI, LOUIS V. AVIOLI, DE WITT S. GOODMAN, HOWARD C. GOODMAN. Annals of Internal Medicine, 1961-12-01
Topic: Genetics and APOE
RODBELLFREDRICKSON MDS: The nature of the proteins associated with dog and human chylomicrons. Part 1: history, demographics, legislation, and burden of diseaseLipidstoffwechselstörungenDiscovery of High-Density Lipoprotein Gene Targets from Classical Genetics to Genome-Wide Association StudiesGenetic Susceptibility in Biochemical and Physiological TraitsLoss‐of‐function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular diseaseHuman genetics of HDL: Insight into particle metabolism and functionVascular GeneticsThe curious case of the orange coloured tonsilsABCA1 and nascent HDL biogenesisTangier disease in a Turkish familyDisorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of DiseaseA man with low cholesterol and weakness of the lower limbsVascular GeneticsPlatelet activating factor levels and metabolism in tangier disease: a case studyRecurrent Lobar Intracerebral Hemorrhage in Tangier DiseaseTangier DiseaseLipidstoffwechselstörungenATP-binding cassette transporter A1 and HDL metabolism: effects of fatty acidsThe NIH Clinical Center and the future of clinical researchAn ABCA1-independent pathway for recycling a poorly lipidated 8.1 nm apolipoprotein E particle from gliaAlteration of negatively charged residues in the 89 to 99 domain of apoA-I affects lipid homeostasis and maturation of HDLHDL: o yin-yang da doença cardiovascularCharacterization of apoA-I-dependent lipid efflux from adipocytes and role of ABCA1ABC transporters, atherosclerosis and inflammationTangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532CGenetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general populationATP Binding Cassette A1 Transporter Function and Tangier DiseaseA novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendencyDisorders of Lipid MetabolismEffect of ABCA1 mutations on risk for myocardial infarctionAbdominal localization of Tangier disease mimicking a pancreatic neoplasmClinical presentation, laboratory values, and coronary heart disease risk in marked high-density lipoprotein–deficiency statesElevated complement activities of sera from patients with high density lipoprotein deficiency (Tangier disease): the presence of normal level of clusterin and the possible implication in the atherosclerosisCorneal Manifestations of Metabolic DiseaseGrosses amygdales orangées et HDL-cholestérol très basFam
Key findings
- RODBELLFREDRICKSON MDS: The nature of the proteins associated with dog and human chylomicrons.
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Study details
- Study designcase report
- Evidence strengthLow
How this study scored 38/100
Published in a leading specialty journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 22 of the 58 points we could judge it on, which is 38 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Annals of Internal Medicine) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | Design recorded as “case report”, which our rubric does not rank (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 1961 — older than 20 years, still counted |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 1 / 2 | Not in PubMed, but has a DOI |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 22 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 22 of the 58 points we could judge it on is 38 out of 100. |
| Total | 38 / 100 | — |
What each of these 20 components measures, and what this score is not →
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Fredrickson, D. S., ALTROCCHI, P. A. U. L. H., AVIOLI, L. V., GOODMAN, D. E. W. I. T. T. S., & GOODMAN, H. C. (1961). Tangier Disease. Annals of Internal Medicine. https://doi.org/10.7326/0003-4819-55-6-1016
Vancouver
Fredrickson DS, ALTROCCHI PAULH, AVIOLI LV, GOODMAN DEWITTS, GOODMAN HC. Tangier Disease. Annals of Internal Medicine. 1961. doi:10.7326/0003-4819-55-6-1016.
BibTeX
@article{fredrickson1961-e931dc66,
author = {Fredrickson, Donald S. and ALTROCCHI, PAUL H. and AVIOLI, LOUIS V. and GOODMAN, DE WITT S. and GOODMAN, HOWARD C.},
title = {{Tangier Disease}},
journal = {Annals of Internal Medicine},
year = {1961},
doi = {10.7326/0003-4819-55-6-1016},
url = {https://doi.org/10.7326/0003-4819-55-6-1016}
}