Concepedia

Familial Hypertriglyceridemia

Familial Hypertriglyceridemia is a monogenic metabolic disorder characterized by elevated fasting plasma triglyceride levels due to impaired clearance of triglyceride-rich lipoproteins, typically inherited in an autosomal dominant pattern within the context of Mendelian cardiovascular disorders.

482

Publications

34.7K

Citations

2.4K

Authors

786

Institutions

Publications per year

2017–2026

91

Variants

Familial Hypertriglyceridaemia

Parents

Publications

482

HLH‐2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis

Jan‐Inge Henter, AnnaCarin Horne, Maurizio Aricò et al. · Pediatric Blood & Cancer · 2006 · 5.3K citations

, , +17

Hyperlipidemia in Coronary Heart Disease II. GENETIC ANALYSIS OF LIPID LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIA

Joseph L. Goldstein, Helmut G. Schrott, William R. Hazzard et al. · Journal of Clinical Investigation · 1973 · 1.5K citations · Full text

, , +17

Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients

Anne C. Goldberg, Paul N. Hopkins, Peter P. Tóth et al. · Journal of clinical lipidology · 2011 · 619 citations

, , +14

Familial lipoprotein disorders in patients with premature coronary artery disease.

Jacques Genest, Sarah Martin-Munley, Judith McNamara et al. · Circulation · 1992 · 603 citations

, , +17

Inhibition of Microsomal Triglyceride Transfer Protein in Familial Hypercholesterolemia

Marina Cuchel, LeAnne T. Bloedon, Philippe Szapary et al. · New England Journal of Medicine · 2007 · 580 citations · Full text

, , +11

1–5 of 482

Authors

2.4K

  1. RA
    Robert A. Hegele

    Western University, Canada

    22 publications · 1.3K citations

    19

    h-index

  2. CJ
    Charles J. Glueck

    Jewish Hospital, United States

    21 publications · 1.4K citations

    18

    h-index

  3. JD
    John D. Brunzell

    University of Washington, United States

    17 publications · 2.1K citations

    17

    h-index

  4. MT
    Marja‐Riitta Taskinen

    University of Helsinki, Finland

    17 publications · 741 citations

    15

    h-index

  5. DG
    Daniel Gaudet

    Université de Montréal, Canada

    14 publications · 1.4K citations

    14

    h-index

1–5 of 2.4K

Institutions

786

  1. University of Washington

    Seattle, United States

    19 h-index

    69 publications

    11.3K citations

  2. Western University

    London, Canada

    16 h-index

    55 publications

    5.1K citations

  3. University of Helsinki

    Helsinki, Finland

    15 h-index

    75 publications

    2.7K citations

  4. Université de Montréal

    Montreal, Canada

    14 h-index

    25 publications

    2.8K citations

  5. Inserm

    Paris, France

    13 h-index

    43 publications

    2.2K citations

  6. Helsinki University Hospital

    Helsinki, Finland

    12 h-index

    51 publications

    1.6K citations

  7. University of Cincinnati

    Cincinnati, United States

    11 h-index

    49 publications

    2.6K citations

  8. University of California, Los Angeles

    Los Angeles, United States

    11 h-index

    68 publications

    2.6K citations

1–8 of 786

Venues

  1. Atherosclerosis

    56 publications · 2.4K citations

    31

    h-index

  2. Journal of clinical lipidology

    38 publications · 3.3K citations

    26

    h-index

  3. Metabolism

    28 publications · 1.8K citations

    20

    h-index

  4. Journal of Lipid Research

    JLR · 20 publications · 1.3K citations

    19

    h-index

  5. PubMed

    Repository · 25 publications · 1.1K citations

    17

    h-index

1–5