Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman

Open source

DOI: 10.1186/s13023-023-02686-6
Published: 2023-04-17
Container: Orphanet Journal of Rare Diseases
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1186/s13023-023-02686-6,
  title = {Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)},
  author = {Tarekegn Geberhiwot and Melissa Wasserstein and Subadra Wanninayake and Shaun Christopher Bolton and Andrea Dardis and Anna Lehman and Olivier Lidove and Charlotte Dawson and Roberto Giugliani and Jackie Imrie and Justin Hopkin and James Green and Daniel de Vicente Corbeira and Shyam Madathil and Eugen Mengel and Fatih Ezgü and Magali Pettazzoni and Barbara Sjouke and Carla Hollak and Marie T. Vanier and Margaret McGovern and Edward Schuchman},
  year = {2023},
  journal = {Orphanet Journal of Rare Diseases},
  doi = {10.1186/s13023-023-02686-6},
  url = {https://doi.org/10.1186/s13023-023-02686-6}
}

RIS

TY  - JOUR
TI  - Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
AU  - Tarekegn Geberhiwot
AU  - Melissa Wasserstein
AU  - Subadra Wanninayake
AU  - Shaun Christopher Bolton
AU  - Andrea Dardis
AU  - Anna Lehman
AU  - Olivier Lidove
AU  - Charlotte Dawson
AU  - Roberto Giugliani
AU  - Jackie Imrie
AU  - Justin Hopkin
AU  - James Green
AU  - Daniel de Vicente Corbeira
AU  - Shyam Madathil
AU  - Eugen Mengel
AU  - Fatih Ezgü
AU  - Magali Pettazzoni
AU  - Barbara Sjouke
AU  - Carla Hollak
AU  - Marie T. Vanier
AU  - Margaret McGovern
AU  - Edward Schuchman
PY  - 2023
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-023-02686-6
UR  - https://doi.org/10.1186/s13023-023-02686-6
ER  -

APA

Geberhiwot, T., Wasserstein, M., Wanninayake, S., Bolton, S. C., Dardis, A., Lehman, A., Lidove, O., Dawson, C., Giugliani, R., Imrie, J., Hopkin, J., Green, J., Corbeira, D. D. V., Madathil, S., Mengel, E., Ezgü, F., Pettazzoni, M., Sjouke, B., Hollak, C., Vanier, M. T., McGovern, M., & Schuchman, E. (2023). Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B). Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-023-02686-6

Source records

crossref · retrieved 2026-09-26T08:21:07.180Z