Concepedia

Hereditary Fructose Intolerance

Hereditary Fructose Intolerance is a rare autosomal recessive inborn error of metabolism characterized by a deficiency of aldolase B, leading to impaired fructose-1-phosphate breakdown and resulting in toxic accumulation that disrupts hepatic carbohydrate metabolism and causes endocrine metabolic disturbances upon fructose ingestion.

149

Publications

5.4K

Citations

564

Authors

212

Institutions

Publications per year

2017–2026

16

Variants

Fructose Aldolase DeficiencyHfi

Parents

Publications

149

Hereditary fructose intolerance

E. R. Froesch, Harald Wolf, Helmut Baitsch et al. · The American Journal of Medicine · 1963 · 255 citations

, , +14

Plasma metabolomic profiles enhance precision medicine for volunteers of normal health

Lining Guo, Michael V. Milburn, John Ryals et al. · Proceedings of the National Academy of Sciences · 2015 · 174 citations · Full text

, , +17

Hereditary Fructose Intolerance in Childhood

M Odièvre · American journal of diseases of children · 1978 · 147 citations

, , +17

Ketohexokinase C blockade ameliorates fructose-induced metabolic dysfunction in fructose-sensitive mice

Miguel A. Lanaspa, Ana Andrés-Hernando, David J. Orlicky et al. · Journal of Clinical Investigation · 2018 · 123 citations · Full text

, , +17

Molecular analysis of aldolase B genes in hereditary fructose intolerance

Nicholas C.P. Cross, Timothy M. Cox, R. de Franchis et al. · The Lancet · 1990 · 122 citations

, , +16

1–5 of 149

Authors

564

  1. DR
    Dean R. Tolan

    Boston University, United States

    17 publications · 846 citations

    16

    h-index

  2. TM
    Timothy M. Cox

    University of Cambridge, United Kingdom

    16 publications · 596 citations

    14

    h-index

  3. FS
    Francesco Salvatore

    University of Naples Federico II, Italy

    8 publications · 216 citations

    8

    h-index

  4. GE
    Gabriella Esposito

    University of Naples Federico II, Italy

    8 publications · 209 citations

    8

    h-index

  5. NC
    Nicholas C.P. Cross

    University of Southampton, United Kingdom

    7 publications · 340 citations

    7

    h-index

1–5 of 564

Institutions

212

  1. Boston University

    Boston, United States

    13 h-index

    33 publications

    1.5K citations

  2. University of Naples Federico II

    Naples, Italy

    10 h-index

    47 publications

    1.4K citations

  3. CEINGE Biotecnologie Avanzate Franco Salvatore (Italy)

    Naples, Italy

    8 h-index

    39 publications

    1.1K citations

  4. Addenbrooke's Hospital

    Cambridge, United Kingdom

    8 h-index

    23 publications

    644 citations

  5. Hammersmith Hospital

    London, United Kingdom

    6 h-index

    13 publications

    304 citations

  6. University of California, San Francisco

    San Francisco, United States

    6 h-index

    14 publications

    605 citations

  7. Children's Memorial Health Institute

    Warsaw, Poland

    5 h-index

    15 publications

    731 citations

  8. Institut Cochin

    Paris, France

    5 h-index

    16 publications

    378 citations

1–8 of 212

Venues

  1. PubMed

    Repository · 15 publications · 424 citations

    13

    h-index

  2. Journal of Inherited Metabolic Disease

    JIMD · 7 publications · 248 citations

    7

    h-index

  3. Journal of Clinical Investigation

    JCI · 5 publications · 338 citations

    5

    h-index

  4. Journal of Medical Genetics

    JMG · 5 publications · 147 citations

    5

    h-index

  5. Molecular Genetics and Metabolism

    5 publications · 203 citations

    5

    h-index

1–5