Concepedia

Krabbe Disease

Krabbe Disease is a rare autosomal recessive lysosomal storage disorder characterized by deficient activity of the enzyme galactosylceramidase, leading to pathological accumulation of psychosine and progressive demyelination in the central and peripheral nervous systems.

430

Publications

33.7K

Citations

1.8K

Authors

534

Institutions

Publications per year

2017–2026

71

Variants

Galactosylceramide LipidosisGloboid Cell Leukodystrophy

Parents

Publications

430

Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease

Valentina Cappello, Laura Marchetti, Paola Parlanti et al. · Scientific Reports · 2016 · 13.3K citations · Full text

, , +17

Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease

Maria L. Escolar, Michele D. Poe, James M. Provenzale et al. · New England Journal of Medicine · 2005 · 713 citations · Full text

, , +14

Globoid Cell Leucodystrophy (Krabbe's Disease): Deficiency of Galactocerebroside β-Galactosidase

Kunihiko Suzuki, Yoshiyuki Suzuki · Proceedings of the National Academy of Sciences · 1970 · 458 citations · Full text

, , +9

Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening

Yijun Li, C. Ronald Scott, Néstor Chamoles et al. · Clinical Chemistry · 2004 · 333 citations · Full text

, , +17

Krabbe disease: a galactosylsphingosine (psychosine) lipidosis.

Lars Svennerholm, M. T. Vanier, J.‐E. Månsson · Journal of Lipid Research · 1980 · 323 citations · Full text

, , +14

1–5 of 430

Authors

1.8K

  1. DA
    David A. Wenger

    Jefferson College, United States

    40 publications · 3.2K citations

    33

    h-index

  2. ER
    Ernesto R. Bongarzone

    University of Illinois Chicago, United States

    26 publications · 1.5K citations

    25

    h-index

  3. ML
    Maria L. Escolar

    University of North Carolina at Chapel Hill, United States

    24 publications · 2.2K citations

    21

    h-index

  4. MA
    Mohammad A. Rafi

    Jefferson College, United States

    17 publications · 981 citations

    15

    h-index

  5. JK
    Joanne Kurtzberg

    Duke Medical Center, United States

    15 publications · 1.8K citations

    14

    h-index

1–5 of 1.8K

Institutions

534

  1. University of Illinois Chicago

    Chicago, United States

    24 h-index

    157 publications

    9.3K citations

  2. Jefferson College

    Hillsboro, United States

    20 h-index

    64 publications

    4.4K citations

  3. New York State Department of Health

    Albany, United States

    17 h-index

    52 publications

    3.4K citations

  4. University of North Carolina at Chapel Hill

    Chapel Hill, United States

    16 h-index

    52 publications

    4.8K citations

  5. Wadsworth Center

    Albany, United States

    16 h-index

    49 publications

    3.3K citations

  6. University at Buffalo, State University of New York

    Buffalo, United States

    15 h-index

    53 publications

    2.8K citations

  7. Thomas Jefferson University

    Philadelphia, United States

    15 h-index

    33 publications

    2.3K citations

  8. University of Pennsylvania

    Philadelphia, United States

    14 h-index

    66 publications

    4.5K citations

1–8 of 534

Venues

  1. PubMed

    Repository · 32 publications · 1.1K citations

    21

    h-index

  2. Pediatric Neurology

    15 publications · 750 citations

    13

    h-index

  3. Journal of Neuroscience Research

    JNR · 13 publications · 528 citations

    12

    h-index

  4. Neurology

    13 publications · 612 citations

    12

    h-index

  5. Neuropediatrics

    11 publications · 417 citations

    11

    h-index

1–5