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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1975 2
1976 4
1977 1
1978 5
1979 3
1980 6
1981 3
1982 4
1984 2
1985 3
1986 8
1987 3
1988 5
1989 1
1990 4
1992 3
1993 4
1994 8
1995 3
1996 1
1997 5
1998 6
1999 3
2000 12
2001 12
2002 8
2003 4
2004 10
2005 5
2006 7
2007 9
2008 2
2009 2
2010 4
2011 7
2012 9
2013 7
2014 10
2015 2
2016 2
2017 2
2018 3
2019 3
2020 2
2021 5
2022 4
2023 2
2024 0

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Search Results

207 results

Results by year

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Page 1
Hypotriglyceridemias/hypolipidemias.
Martínez-Hervás S, Real-Collado JT, Ascaso-Gimilio JF. Martínez-Hervás S, et al. Clin Investig Arterioscler. 2021 May;33 Suppl 2:63-68. doi: 10.1016/j.arteri.2020.12.011. Clin Investig Arterioscler. 2021. PMID: 34006356 Review. English, Spanish.
Within them, we find two groups: hypobetalipoproteinemias (HBL), due to a decrease in the plasma concentration of lipoproteins containing apolipoprotein B, and hypoalphalipoproteinemias. Hypolipoproteinemias can be classified according to their origin, into primary and sec …
Within them, we find two groups: hypobetalipoproteinemias (HBL), due to a decrease in the plasma concentration of lipoproteins containing ap …
Familial hypoalphalipoproteinemia.
Glueck CJ, Melser MA, Borecki IB, Third JL, Rao DC, Laskarzewski PM. Glueck CJ, et al. Adv Exp Med Biol. 1986;201:83-92. doi: 10.1007/978-1-4684-1262-8_8. Adv Exp Med Biol. 1986. PMID: 3541525 Review. No abstract available.
The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.
Jacobo-Albavera L, Domínguez-Pérez M, Medina-Leyte DJ, González-Garrido A, Villarreal-Molina T. Jacobo-Albavera L, et al. Int J Mol Sci. 2021 Feb 5;22(4):1593. doi: 10.3390/ijms22041593. Int J Mol Sci. 2021. PMID: 33562440 Free PMC article. Review.
HDL genetic defects.
Nair DR, Nair A, Jain A. Nair DR, et al. Curr Pharm Des. 2014;20(40):6230-7. doi: 10.2174/1381612820666140620122412. Curr Pharm Des. 2014. PMID: 24953397 Review.
The genetic defects affecting plasma HDL-C concentrations do not always show a consistent relationship with atherosclerosis. Familial hypoalphalipoproteinaemia is associated with mutations in genes responsible for the transport proteins or the enzymes involved in th …
The genetic defects affecting plasma HDL-C concentrations do not always show a consistent relationship with atherosclerosis. Familial …
Progress in finding pathogenic DNA copy number variations in dyslipidemia.
Iacocca MA, Dron JS, Hegele RA. Iacocca MA, et al. Curr Opin Lipidol. 2019 Apr;30(2):63-70. doi: 10.1097/MOL.0000000000000581. Curr Opin Lipidol. 2019. PMID: 30664016 Review.
RECENT FINDINGS: Until last year, only the LDLR and LPA genes were appreciated as loci within which clinically relevant CNVs contributed to familial hypercholesterolemia and variation in Lp(a) levels, respectively. Since 2017, next-generation sequencing panels have identif …
RECENT FINDINGS: Until last year, only the LDLR and LPA genes were appreciated as loci within which clinically relevant CNVs contributed to …
LCAT- targeted therapies: Progress, failures and future.
Yang K, Wang J, Xiang H, Ding P, Wu T, Ji G. Yang K, et al. Biomed Pharmacother. 2022 Mar;147:112677. doi: 10.1016/j.biopha.2022.112677. Epub 2022 Feb 2. Biomed Pharmacother. 2022. PMID: 35121343 Free article. Review.
Because LCAT plays a central role in HDL metabolism and RCT, many animal studies and clinical studies are currently aimed at improving plasma lipid metabolism by increasing LCAT activity in order to find better treatment options for familial LCAT deficiency (FLD), fish eye …
Because LCAT plays a central role in HDL metabolism and RCT, many animal studies and clinical studies are currently aimed at improving plasm …
A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.
Vitali C, Bajaj A, Nguyen C, Schnall J, Chen J, Stylianou K, Rader DJ, Cuchel M. Vitali C, et al. J Lipid Res. 2022 Mar;63(3):100169. doi: 10.1016/j.jlr.2022.100169. Epub 2022 Jan 20. J Lipid Res. 2022. PMID: 35065092 Free PMC article. Review.
Syndromes associated with LCAT deficiency, a rare autosomal recessive condition, include fish-eye disease (FED) and familial LCAT deficiency (FLD). FLD is more severe and characterized by early and progressive chronic kidney disease (CKD). ...
Syndromes associated with LCAT deficiency, a rare autosomal recessive condition, include fish-eye disease (FED) and familial LCAT def …
Rare Diseases Related with Lipoprotein Metabolism.
Zhou H, Gong Y, Wu Q, Ye X, Yu B, Lu C, Jiang W, Ye J, Fu Z. Zhou H, et al. Adv Exp Med Biol. 2020;1276:171-188. doi: 10.1007/978-981-15-6082-8_11. Adv Exp Med Biol. 2020. PMID: 32705600 Review.
One of the most famous milestones made by Michael Brown and Joseph Goldstein in metabolism field is the discovery of the defective gene in familial hypercholesterolemia, a rare human genetic disease manifested with extreme high level of serum cholesterol (Goldstein JL, Bro …
One of the most famous milestones made by Michael Brown and Joseph Goldstein in metabolism field is the discovery of the defective gene in …
Familial hypoalphalipoproteinemias.
Frohlich J, Westerlund J, Sparks D, Pritchard PH. Frohlich J, et al. Clin Invest Med. 1990 Aug;13(4):202-10. Clin Invest Med. 1990. PMID: 2119926 Review.
The familial hypoalphalipoproteinemias are a heterogeneous group of rare lipoprotein disorders characterized by extremely low levels of plasma high density lipoproteins (HDL) and, in most cases, autosomal recessive inheritance. ...This is true of Tangier disease, Fi …
The familial hypoalphalipoproteinemias are a heterogeneous group of rare lipoprotein disorders characterized by extremely low …
Tangier disease and ABCA1.
Oram JF. Oram JF. Biochim Biophys Acta. 2000 Dec 15;1529(1-3):321-30. doi: 10.1016/s1388-1981(00)00157-8. Biochim Biophys Acta. 2000. PMID: 11111099 Review.
Mutations in the ATP binding cassette transporter ABCA1 cause Tangier disease and other familial HDL deficiencies. ABCA1 controls a cellular pathway that secretes cholesterol and phospholipids to lipid-poor apolipoproteins. ...
Mutations in the ATP binding cassette transporter ABCA1 cause Tangier disease and other familial HDL deficiencies. ABCA1 controls a c …
207 results