Orphanet Journal of Rare Diseases

Published by: Biomed Central Ltd  

People

  1. Boelens
    Boelens
  2. Diamond
    Diamond
  3. Abdel-Wahab
    Abdel-Wahab
  4. Francis
    Francis
  5. Hatzoglou
    Hatzoglou
  6. Healey
    Healey
  7. Holodny
    Holodny
  8. Panageas
    Panageas
  9. Rampal
    Rampal
  10. Reiner
    Reiner

Groups

  1. Tow Center for Developmental Oncology (TCDO) (6)
  2. Pediatrics, Department of (5)
  3. Stem Cell Transplantation and Cellular Therapy Service (5)
  4. Surgery (2)
  5. Adult Leukemia (1)
  6. Biostatistics Service (1)
  7. Center for Hematologic Malignancies (1)
  8. Department of Medicine (1)
  9. Early Drug Development Service (1)
  10. Epidemiology and Biostatistics (1)
Search Within
Formats
  1. Journal Article (4)
  2. Review (3)
  3. Research Letter (1)
Groups
  1. Tow Center for Developmental Oncology (TCDO) (6)
  2. Pediatrics, Department of (5)
  3. Stem Cell Transplantation and Cellular Therapy Service (5)
  4. Surgery (2)
  5. Adult Leukemia (1)
  6. Biostatistics Service (1)

More Groups

People
  1. Jaap Jan Boelens (5)
  2. Eli Diamond (2)
  3. Andrei Holodny (1)
  4. Anne Reiner (1)
  5. David Hyman (1)
  6. Jasmine Francis (1)

More People

Years
  1. 2025 (1)
  2. 2024 (1)
  3. 2022 (2)
  4. 2021 (2)
  5. 2019 (1)
  6. 2016 (1)
Publishers
  1. Biomed Central Ltd (8)

Results (8)


Citation style sort is year ascending, and then by author or title. Author ascending is default.
  • Perspectives on the current diagnostic and treatment paradigms in secondary hemophagocytic lymphohistiocytosis (HLH)
    Review

    Naymagon, L.; Roehrs, P.; Hermiston, M.; Connelly, J.; Bednarski, J.; Boelens, J. J.; Chandrakasan, S.; Dávila Saldaña, B.; Henry, M. M.; Satwani, P.; more...
    Orphanet Journal of Rare Diseases (2025)

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  • Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
    Journal Article

    Schoenmakers, D. H.; Mochel, F.; Adang, L. A.; Boelens, J. J.; Calbi, V.; Eklund, E. A.; Grønborg, S. W.; Fumagalli, F.; Groeschel, S.; Lindemans, C.; more...
    Orphanet Journal of Rare Diseases (2024)

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  • Rosai–Dorfman–Destombes disease of the nervous system: A systematic literature review
    Review

    Nasany, R. A.; Reiner, A. S.; Francis, J. H.; Abla, O.; Panageas, K. S.; Diamond, E. L.
    Orphanet Journal of Rare Diseases (2022)

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  • Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for metachromatic leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
    Journal Article

    Schoenmakers, D. H.; Beerepoot, S.; van den Berg, S.; Adang, L.; Bley, A.; Boelens, J. J.; Fumagalli, F.; Goettsch, W. G.; Grønborg, S.; Groeschel, S.; more...
    Orphanet Journal of Rare Diseases (2022)

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  • The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: A prospective multicenter study
    Journal Article

    Bernthal, N. M.; Spierenburg, G.; Healey, J. H.; Palmerini, E.; Bauer, S.; Topp Study Group; Gelderblom, H.; Staals, E. L.; Lopez-Bastida, J.; Fronk, E. M.; more...
    Orphanet Journal of Rare Diseases (2021)

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  • New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)
    Research Letter

    Willemse, B. W. M.; van der Crabben, S. N.; Kerstjens-Frederikse, W. S.; Timens, W.; van Montfrans, J. M.; Lindemans, C. A.; Boelens, J. J.; Hennus, M. P.; van Haaften, G.
    Orphanet Journal of Rare Diseases (2021)

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  • Peripheral neuropathy in metachromatic leukodystrophy: Current status and future perspective
    Review

    Beerepoot, S.; Nierkens, S.; Boelens, J. J.; Lindemans, C.; Bugiani, M.; Wolf, N. I.
    Orphanet Journal of Rare Diseases (2019)

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  • Diffuse reduction of cerebral grey matter volumes in Erdheim-Chester disease
    Journal Article

    Diamond, E. L.; Hatzoglou, V.; Patel, S.; Abdel-Wahab, O.; Rampal, R.; Hyman, D. M.; Holodny, A. I.; Raj, A.
    Orphanet Journal of Rare Diseases (2016)

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    • Orphanet Journal of Rare Diseases – authorized name for:

    Name ISSN / ISBN Publisher
    Orphanet Journal of Rare Diseases 1750-1172 Biomed Central Ltd
    Orphanet Journal of Rare Diseases 1750-1172 Biomed Central Ltd
    Orphanet Journal of Rare Diseases 1750-1172 Unknown
    Orphanet Journal of Rare Diseases 17501172 2022, The Author(s)
    Orphanet Journal of Rare Diseases 1750-1172 Biomed Central Ltd
    Orphanet Journal of Rare Diseases 17501172 The Author(s) 2024
    Orphanet Journal of Rare Diseases 1750-1172 Biomed Central Ltd
    Orphanet Journal of Rare Diseases 1750-1172 Biomed Central Ltd
    Orphanet Journal of Rare Diseases 17501172 Unknown
    Orphanet Journal of Rare Diseases 17501172 The Author(s) 2025
    Orphanet Journal of Rare Diseases 1750-1172 Biomed Central Ltd
    Orphanet Journal of Rare Diseases 1750-1172 Biomed Central Ltd