Concepedia

Metachromatic Leukodystrophy

Metachromatic Leukodystrophy is a lysosomal storage disorder characterized by the accumulation of sulfatides due to a deficiency of arylsulfatase A, leading to progressive demyelination of the central and peripheral nervous systems.

644

Publications

28.9K

Citations

2.5K

Authors

724

Institutions

Publications per year

2017–2026

78

Variants

Mld

Parents

Publications

644

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

Alessandra Biffi, Eugenio Montini, Laura Lorioli et al. · Science · 2013 · 1.2K citations · Full text

, , +16

Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH)

ON Koç, John Day, Michael L. Nieder et al. · Bone Marrow Transplantation · 2002 · 655 citations

, , +12

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

Maria Sessa, Laura Lorioli, Francesca Fumagalli et al. · The Lancet · 2016 · 507 citations

, , +13

Tay-Sachs Disease

John S. O’Brien, Shintaro Okada, Agnes Chen et al. · New England Journal of Medicine · 1970 · 299 citations

, , +14

Molecular Basis of Different Forms of Metachromatic Leukodystrophy

Andreas Polten, Arvan L. Fluharty, Claire B. Fluharty et al. · New England Journal of Medicine · 1991 · 298 citations · Full text

, , +13

1–5 of 644

Authors

2.5K

  1. VG
    Volkmar Gieselmann

    University of Bonn, Germany

    52 publications · 3.1K citations

    31

    h-index

  2. IK
    Ingeborg Krägeloh‐Mann

    University Children's Hospital Tübingen, Germany

    20 publications · 1.2K citations

    18

    h-index

  3. SG
    Samuel Groeschel

    University Children's Hospital Tübingen, Germany

    19 publications · 1K citations

    17

    h-index

  4. NI
    Nicole I. Wolf

    Amsterdam Neuroscience, Netherlands

    16 publications · 656 citations

    16

    h-index

  5. AL
    Arvan L. Fluharty

    University of California, Los Angeles, United States

    18 publications · 1.4K citations

    16

    h-index

1–5 of 2.5K

Institutions

724

  1. University of Bonn

    Bonn, Germany

    28 h-index

    130 publications

    5.8K citations

  2. The San Raffaele Telethon Institute for Gene Therapy

    Milan, Italy

    21 h-index

    195 publications

    42.9K citations

  3. University Children's Hospital Tübingen

    Tübingen, Germany

    20 h-index

    99 publications

    6.2K citations

  4. University of Göttingen

    Göttingen, Germany

    19 h-index

    82 publications

    5.8K citations

  5. University of Tübingen

    Tübingen, Germany

    17 h-index

    55 publications

    2.5K citations

  6. Vita-Salute San Raffaele University

    Milan, Italy

    16 h-index

    169 publications

    32.8K citations

  7. University of Minnesota

    Minneapolis, United States

    16 h-index

    43 publications

    4K citations

  8. Amsterdam Neuroscience

    Amsterdam, The Netherlands

    15 h-index

    80 publications

    3.4K citations

1–8 of 724

Venues

  1. PubMed

    Repository · 49 publications · 1.6K citations

    24

    h-index

  2. Neurology

    25 publications · 1.3K citations

    23

    h-index

  3. Archives of Neurology

    24 publications · 1.3K citations

    21

    h-index

  4. Human Mutation

    17 publications · 481 citations

    14

    h-index

  5. Clinical Genetics

    16 publications · 522 citations

    13

    h-index

1–5