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A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8794-7-17
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- Publication type:
- Article
Evaluation of Chitotriosidase and CC-Chemokine Ligand 18 as Biomarkers of Microglia Activation in Amyotrophic Lateral Sclerosis.
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- Neurodegenerative Diseases, 2018, v. 18, n. 4, p. 208, doi. 10.1159/000490920
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- Publication type:
- Article
Removing Lipemia in Serum/Plasma Samples: A Multicenter Study.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 6, p. 518, doi. 10.3343/alm.2018.38.6.518
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- Publication type:
- Article
Acquired lipoprotein lipase deficiency associated with chronic urticaria. A new etiology for type I hyperlipoproteinemia.
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- European Journal of Endocrinology, 1999, v. 141, n. 5, p. 502, doi. 10.1530/eje.0.1410502
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- Publication type:
- Article
Multiplex assay for genetic testing of thrombophilia: a method for routine clinical care.
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- Journal of Clinical Laboratory Analysis, 2007, v. 21, n. 6, p. 349, doi. 10.1002/jcla.20183
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- Publication type:
- Article
Bicyclic Derivatives of L-Idonojirimycin as Pharmacological Chaperones for Neuronopathic Forms of Gaucher Disease.
- Published in:
- ChemBioChem, 2013, v. 14, n. 8, p. 943, doi. 10.1002/cbic.201200708
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- Publication type:
- Article
Molecular characterization of familial hypercholesterolemia in Spain: Identification of 39 novel and 77 recurrent mutations in LDLR.
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- Human Mutation, 2004, v. 24, n. 2, p. 187, doi. 10.1002/humu.9264
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- Publication type:
- Article
Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C] in Spanish Gaucher disease patients.
- Published in:
- Human Mutation, 1999, v. 14, n. 1, p. 88, doi. 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU16>3.0.CO;2-E
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- Publication type:
- Article
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia.
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- Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU17>3.0.CO;2-F
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- Publication type:
- Article
Association and linkage disequilibrium analyses of APOE polymorphisms in atherosclerosis.
- Published in:
- Disease Markers, 2008, v. 24, n. 2, p. 65, doi. 10.1155/2008/650410
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- Publication type:
- Article
Complement regulation in murine and human hypercholesterolemia and role in the control of macrophage and smooth muscle cell proliferation
- Published in:
- Cardiovascular Research, 2007, v. 76, n. 2, p. 340, doi. 10.1016/j.cardiores.2007.06.028
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- Publication type:
- Article
Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1396, doi. 10.1002/humu.22381
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- Publication type:
- Article
Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.
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- Human Mutation, 2011, v. 32, n. 8, p. 868, doi. 10.1002/humu.21520
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- Publication type:
- Article
Serum Chitotriosidase Activity, a Marker of Activated Macrophages, Predicts New Cardiovascular Events Independently of C-Reactive Protein.
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- Cardiology, 2007, v. 108, n. 4, p. 297, doi. 10.1159/000099099
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- Article
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.
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- Application of Clinical Genetics, 2010, v. 3, p. 53
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- Publication type:
- Article
Screening of APOB Gene Mutations in Subjects with Clinical Diagnosis of Familial Hypercholesterolemia.
- Published in:
- Human Biology, 2005, v. 77, n. 5, p. 663, doi. 10.1353/hub.2006.0005
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- Publication type:
- Article
Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150785
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- Publication type:
- Article
Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL
- Published in:
- FEBS Letters, 2005, v. 579, n. 20, p. 4503, doi. 10.1016/j.febslet.2005.06.087
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- Publication type:
- Article
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
- Published in:
- 2017
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- Publication type:
- journal article