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Academic Journal

Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial.

  • Authors : Johnson C; Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Chen J

Subjects: Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/diagnosis ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/therapy

  • Source: Implementation science : IS [Implement Sci] 2024 Apr 09; Vol. 19 (1), pp. 30. Date of Electronic Publication: 2024 Apr 09.Publisher: BioMed Central Country of Publication: England NLM ID: 101258411 Publication Model: Electronic Cited Medium: Internet ISSN: 1748-5908

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Academic Journal

LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.

  • Authors : Wang K; Department of Cardiology, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China.; Hu T

Subjects: Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/diagnosis; Humans

  • Source: Lipids in health and disease [Lipids Health Dis] 2024 Mar 21; Vol. 23 (1), pp. 85. Date of Electronic Publication: 2024 Mar 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101147696 Publication Model: Electronic Cited Medium: Internet ISSN: 1476-511X

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Academic Journal

Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.

  • Authors : Pussadhamma B; Department of Internal Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.; Queen Sirikit Heart Center of the Northeast, Khon Kaen University, Khon Kaen, Thailand.

Subjects: Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/drug therapy ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/diagnosis

  • Source: Scientific reports [Sci Rep] 2024 Mar 21; Vol. 14 (1), pp. 6785. Date of Electronic Publication: 2024 Mar 21.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing.

  • Authors : Xu S; Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.; Shiomi H

Subjects: Nanopore Sequencing* ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/diagnosis ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics

  • Source: PloS one [PLoS One] 2024 Mar 20; Vol. 19 (3), pp. e0297231. Date of Electronic Publication: 2024 Mar 20 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.

  • Authors : Konečná K; Centre of Molecular Biology and Genetics, University Hospital Brno, Jihlavská 20, Brno, 625 00, Czech Republic.; National Centre for Biomolecular Research, Faculty of Science, Masaryk University, Kamenice 5, Brno, 625 00, Czech Republic.

Subjects: Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/epidemiology; Humans

  • Source: Lipids in health and disease [Lipids Health Dis] 2024 Feb 02; Vol. 23 (1), pp. 36. Date of Electronic Publication: 2024 Feb 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101147696 Publication Model: Electronic Cited Medium: Internet ISSN: 1476-511X

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Academic Journal

A machine-learning algorithm using claims data to identify patients with homozygous familial hypercholesterolemia.

  • Authors : Gu J; Regeneron Pharmaceuticals, Inc., 777 Old Saw Mill River Road, Tarrytown, New York, NY, 10591, USA.; Epland M

Subjects: Homozygous Familial Hypercholesterolemia* ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/drug therapy ; Cardiovascular Diseases*

  • Source: Scientific reports [Sci Rep] 2024 Apr 17; Vol. 14 (1), pp. 8890. Date of Electronic Publication: 2024 Apr 17.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

A novel equation for the estimation of low-density lipoprotein cholesterol in the Saudi Arabian population: a derivation and validation study.

  • Authors : Nuwaylati DA; Department of Clinical Biochemistry, Faculty of Medicine, University of Jeddah, 21959, Jeddah, Saudi Arabia. .; Awan ZA

Subjects: Arabs* ; Hyperlipoproteinemia Type II*; Humans

  • Source: Scientific reports [Sci Rep] 2024 Mar 05; Vol. 14 (1), pp. 5478. Date of Electronic Publication: 2024 Mar 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.

Subjects: Hypercholesterolemia* ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics; Humans

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2410.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.

Subjects: Fabry Disease* ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics ; Undiagnosed Diseases*

  • Source: Scientific reports [Sci Rep] 2024 Mar 01; Vol. 14 (1), pp. 5056. Date of Electronic Publication: 2024 Mar 01.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Establishing non-fasting reference values for plasma lipids levels based on age, sex, and puberty stage in a French-Canadian pediatric population.

  • Authors : Bouhour S; Department of Pediatrics, University of Sherbrooke, 3001 12E Avenue Nord, Sherbrooke, QC, J1H 5N4, Canada.; Plantefève R

Subjects: Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics ; Dyslipidemias*; Male

  • Source: Lipids in health and disease [Lipids Health Dis] 2024 Feb 22; Vol. 23 (1), pp. 54. Date of Electronic Publication: 2024 Feb 22.Publisher: BioMed Central Country of Publication: England NLM ID: 101147696 Publication Model: Electronic Cited Medium: Internet ISSN: 1476-511X

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  • 1-10 of  4,112 results for ""Hyperlipoproteinemia Type II""