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Ryan et al. J Transl Genet Genom. 2025;9:48-61 https://dx.doi.org/10.20517/jtgg.2024.87 Page 60

DECLARATIONS
Acknowledgments
The authors would like to express their gratitude for the technical expertise and facilities provided by the
Monash Biomedicine Discovery Institute Organoid Program. Special thanks to Monash MicroImaging, the
Monash Proteomics and Metabolomics Facility, and the Monash Ramaciotti Centre for Cryo-Electron
Microscopy at Monash University, Clayton Campus, for their invaluable support, expertise, and technical
assistance. The authors also sincerely thank the patients and their families who contributed to this study by
providing tissue samples.

Authors’ contributions
Experiments: Ryan CR, Wise AF, Bruell S
Conceptual design: Wise AF, Fuller M, Nicholls KM, Ricardo SD
Wrote the manuscript: Ryan CR, Ricardo SD
Read and edited the manuscript: Ryan CR, Wise AF, Tindoy E, Bruell S, Fuller M, Nicholls KM, Ricardo SD

Availability of data and materials
The data discussed in this publication are accessible through https://www.ebi.ac.uk/pride/. Proteomics raw
data are available via ProteomeXchange with the identifier PXD050848. iPSCs generated in this study will be
available upon reasonable request; however, a completed Materials Transfer Agreement may be required.

Financial support and sponsorship
This study was supported by a philanthropic grant from the Honig family/Honig Medical Research
Fellowship and funding from Shire/Takeda, Sanofi/Genzyme, and the Royal Melbourne Hospital Fabry
Research Fund.

Conflicts of interest
Nicholls KM received research grant support and speaker/advisory board honoraria from Shire/Takeda,
Sanofi/Genzyme, while the other authors have declared that they have no conflicts of interest.

Ethical approval and consent to participate
The research was carried out in accordance with the Declaration of Helsinki (2008) of the World Medical
Association. Ethical approval was obtained from the Royal Melbourne Hospital Human Research Ethics
Committee (66294/MH-2020) and Monash University Human Research Ethics Committee (Project number
CF16/1247 – 2016000663). Informed consent was obtained from all participants.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2025.

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