Works matching DE "HYPOLIPOPROTEINEMIA"
Results: 68
A RARE CASE, A 14-Year-Old Case Report of Hypobetalipoproteinemia Diffused Acute Anterior Myocard Infarction.
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- E Journal of Cardiovascular Medicine, 2023, v. 11, p. 1
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- Article
Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia.
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- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/219691
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- Article
FAMİLYAL HİPOBETALİPOPROTEİNEMİLİ BİR OLGU.
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- Nobel Medicus Journal, 2007, v. 3, n. 1, p. 30
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- Article
Tangier disease: still more questions than answers.
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- Cellular & Molecular Life Sciences, 2005, v. 62, n. 19/20, p. 2150, doi. 10.1007/s00018-005-5125-0
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- Article
Familial hypobetalipoproteinemia: genetics and metabolism.
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- Cellular & Molecular Life Sciences, 2005, v. 62, n. 12, p. 1372, doi. 10.1007/s00018-005-4473-0
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- Article
LDL is out again - through the crosstalk of two atheroprotective mechanisms: ABCA1 of macrophages and NO˙ from endothelial cells.
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- 2014
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- Editorial
Platelet activating factor levels and metabolism in tangier disease: a case study.
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- 2012
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- Case Study
Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature.
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- Acta Diabetologica, 2017, v. 54, n. 2, p. 111, doi. 10.1007/s00592-016-0931-4
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- Article
Exome sequencing identifies novel ApoB loss-of-function mutations causing hypobetalipoproteinemia in type 1 diabetes.
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- Acta Diabetologica, 2015, v. 52, n. 3, p. 531, doi. 10.1007/s00592-014-0687-7
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- Article
Hepatitis C and steatosis: a reappraisal.
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- Journal of Viral Hepatitis, 2006, v. 13, n. 2, p. 73, doi. 10.1111/j.1365-2893.2005.00669.x
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- Article
An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia.
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- Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 12, p. 1, doi. 10.7860/JCDR/2015/14166.6919
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- Article
Tangier Disease.
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- Annals of Internal Medicine, 1961, v. 55, n. 6, p. 1016
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- Article
Monogenic Hypocholesterolaemic Lipid Disorders and Apolipoprotein B Metabolism.
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- Critical Reviews in Clinical Laboratory Sciences, 2005, v. 42, n. 5/6, p. 515, doi. 10.1080/10408360500295113
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- Article
Finding the gene that regulates HDL cholesterol.
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- Canadian Medical Association Journal (CMAJ), 1999, v. 161, n. 8, p. 937
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- Article
Treating Dyslipidemic Patients with Lipid-Modifying and Combination Therapies.
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- Pharmacotherapy, 2003, v. 23, n. 5, p. 625, doi. 10.1592/phco.23.5.625.32204
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- Article
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #634 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/634.pdf)
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- Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9163
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- Article
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #634 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/634.pdf
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- Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9163
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- Article
Cholesterol Paradox in Patients with Paroxysmal Atrial Fibrillation.
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- Cardiology, 1999, v. 92, n. 1, p. 21, doi. 10.1159/000006942
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- Article
The great beyond.
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- 2012
- Publication type:
- Editorial
Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease.
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- Journal of Human Genetics, 2002, v. 47, n. 6, p. 325, doi. 10.1007/s100380200044
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- Article
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation.
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- Frontiers in Neurology, 2016, v. 7, p. 1, doi. 10.3389/fneur.2016.00185
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- Article
Familial Hypobetalipoproteinemia.
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- JAMA: Journal of the American Medical Association, 1989, v. 261, n. 3, p. 448
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- Article
Ezetimibe/simvastatin combination reduces LDL cholesterol.
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- Formulary, 2004, v. 39, n. 4, p. 199
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- Article
Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia.
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- Annals of Clinical Biochemistry, 2009, v. 46, n. 5, p. 420, doi. 10.1258/acb.2009.009004
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- Article
Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutations.
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- Clinical Science, 2017, v. 131, n. 16, p. 2095, doi. 10.1042/CS20170195
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- Article
Good cholesterol news.
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- Nature, 1999, v. 400, n. 6747, p. 816, doi. 10.1038/23584
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- Article
A transposable element insertion in APOB causes cholesterol deficiency in Holstein cattle.
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- Animal Genetics, 2016, v. 47, n. 2, p. 253, doi. 10.1111/age.12410
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- Article
Tangier disease with unusual clinical manifestations.
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- Clinical Genetics, 2003, v. 63, n. 4, p. 323, doi. 10.1034/j.1399-0004.2003.00056.x
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- Article
Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia.
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- FASEB Journal, 2013, v. 27, n. 7, p. 2855, doi. 10.1096/fj.12-225169
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- Article
Fibrinogen storage disease and cirrhosis associated with hypobetalipoproteinemia owing to fibrinogen Aguadilla in a Turkish child.
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- Liver International, 2015, v. 35, n. 12, p. 2501, doi. 10.1111/liv.12914
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- Article
ABC1: The gene for Tangier disease and beyond.
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- Nutrition Reviews, 2000, v. 58, n. 3, p. 76
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- Article
Characteristics of Lipids Imbalance in Patients with Tick-Borne Encephalitis.
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- Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 6/7, p. 1003, doi. 10.1081/NCN-200026055
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- Article
Fatty liver and insulin resistance in children with hypobetalipoproteinemia: the importance of aetiology.
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- Clinical Endocrinology, 2013, v. 79, n. 1, p. 49, doi. 10.1111/j.1365-2265.2012.04498.x
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- Article
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population:a population-based survey.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 331, doi. 10.1093/hmg/8.2.331
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- Article
An infant with chronic diarrhoea and failure to thrive.
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- European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 123, doi. 10.1007/s004310050027
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- Article
Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice.
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- Nature Genetics, 2000, v. 24, n. 2, p. 192, doi. 10.1038/72869
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- Article
The ABCs of cholesterol efflux.
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- Nature Genetics, 1999, v. 22, n. 4, p. 316, doi. 10.1038/11878
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- Article
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
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- Nature Genetics, 1999, v. 22, n. 4, p. 336, doi. 10.1038/11905
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- Article
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
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- Nature Genetics, 1999, v. 22, n. 4, p. 347, doi. 10.1038/11914
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- Article
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.
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- Nature Genetics, 1999, v. 22, n. 4, p. 352, doi. 10.1038/11921
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- Article
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.
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- 1998
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- Erratum
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.
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- Nature Genetics, 1998, v. 20, n. 1, p. 96, doi. 10.1038/1770
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- Article
Polyunsaturated Fatty Acids and Modulation of Cholesterol Homeostasis in THP-1 Macrophage-Derived Foam Cells.
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- International Journal of Molecular Sciences, 2010, v. 11, n. 11, p. 4660, doi. 10.3390/ijms11114660
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- Article
Dr D.S. Fredrickson: Founding father of the field of lipidology.
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- British Columbia Medical Journal, 2012, v. 54, n. 7, p. 336
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- Article
Hipobetalipoproteinemia rodzinna jako schorzenie często występujące w populacji polskich dzieci ze stłuszczeniem wątroby.
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- Contemporary Pediatrics, Gastroenterology, Hepatology & Child Feeding / Pediatria Wspolczesna, Gastroenterologia, Heptologia i Zywienie Dziecka, 2012, v. 14, n. 3, p. 109
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- Article
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.
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- Clinical Genetics, 2002, v. 61, n. 2, p. 101, doi. 10.1034/j.1399-0004.2002.610204.x
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- Article
The ethics of benefit sharing.
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- Clinical Genetics, 2001, v. 59, n. 4, p. 240, doi. 10.1034/j.1399-0004.2001.590404.x
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- Article
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0143-3
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- Article
Coronary Heart Disease Prevalence and Other Clinical Features in Familial High-Density Lipoprotein Deficiency (Tangier Disease).
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- Annals of Internal Medicine, 1980, v. 93, n. 2, p. 261, doi. 10.7326/0003-4819-93-2-261
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- Article
Effects of Lovastatin on High-Density Lipoprotein Subfractions in Hypercholesterolemic Patients with Peripheral Vascular Disease.
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- Angiology, 1993, v. 44, n. 2, p. 129, doi. 10.1177/000331979304400207
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- Article