TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT

Giulia Prunotto, Marie Parreillet, Bénédicte Neven, Despina Moshous, Genevieve de Saint Basile, Caroline Lindemans, Timothy Ronan Leahy, Elie Haddad, Herbert Pichler, Joao Farela Neves, Mary Slatter, Nasrine Radwan, Carsten Speckmann, Christos Tzivinikos, Edward J. Hoffenberg, Chee Y. Ooi, Alberto Pinzon-Charry, Looi C. Ee, Silvia Ricci, Michael H. Albert, Jonathan O’Donnell, Austen Worth, Holm H. Uhlig, Aleixo Muise, Giovanna Lucchini

Open source

DOI: 10.70962/jhi.20250271
Published: 2026-07-08
Container: Journal of Human Immunity
Publisher: Rockefeller University Press
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.70962/jhi.20250271,
  title = {TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT},
  author = {Giulia Prunotto and Marie Parreillet and Bénédicte Neven and Despina Moshous and Genevieve de Saint Basile and Caroline Lindemans and Timothy Ronan Leahy and Elie Haddad and Herbert Pichler and Joao Farela Neves and Mary Slatter and Nasrine Radwan and Carsten Speckmann and Christos Tzivinikos and Edward J. Hoffenberg and Chee Y. Ooi and Alberto Pinzon-Charry and Looi C. Ee and Silvia Ricci and Michael H. Albert and Jonathan O’Donnell and Austen Worth and Holm H. Uhlig and Aleixo Muise and Giovanna Lucchini},
  year = {2026},
  journal = {Journal of Human Immunity},
  doi = {10.70962/jhi.20250271},
  url = {https://doi.org/10.70962/jhi.20250271}
}

RIS

TY  - JOUR
TI  - TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT
AU  - Giulia Prunotto
AU  - Marie Parreillet
AU  - Bénédicte Neven
AU  - Despina Moshous
AU  - Genevieve de Saint Basile
AU  - Caroline Lindemans
AU  - Timothy Ronan Leahy
AU  - Elie Haddad
AU  - Herbert Pichler
AU  - Joao Farela Neves
AU  - Mary Slatter
AU  - Nasrine Radwan
AU  - Carsten Speckmann
AU  - Christos Tzivinikos
AU  - Edward J. Hoffenberg
AU  - Chee Y. Ooi
AU  - Alberto Pinzon-Charry
AU  - Looi C. Ee
AU  - Silvia Ricci
AU  - Michael H. Albert
AU  - Jonathan O’Donnell
AU  - Austen Worth
AU  - Holm H. Uhlig
AU  - Aleixo Muise
AU  - Giovanna Lucchini
PY  - 2026
JO  - Journal of Human Immunity
DO  - 10.70962/jhi.20250271
UR  - https://doi.org/10.70962/jhi.20250271
ER  -

APA

Prunotto, G., Parreillet, M., Neven, B., Moshous, D., Basile, G. D. S., Lindemans, C., Leahy, T. R., Haddad, E., Pichler, H., Neves, J. F., Slatter, M., Radwan, N., Speckmann, C., Tzivinikos, C., Hoffenberg, E. J., Ooi, C. Y., Pinzon-Charry, A., Ee, L. C., Ricci, S., Albert, M. H., O’Donnell, J., Worth, A., Uhlig, H. H., Muise, A., & Lucchini, G. (2026). TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT. Journal of Human Immunity. https://doi.org/10.70962/jhi.20250271

Source records

crossref · retrieved 2026-11-10T10:40:13.112Z