Publications that have used the INPDR will be kept up to date as follows:

Zampieri, S., Filocamo, M., Pianta, A., Lualdi, S., Gort, L., Coll, M., Sinnott, R., Geberhiwot, T., Bembi, B. and Dardis, A. (2015). SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. Human Mutation, 37(2), pp.139-147.

Imrie, J., Pineda, M., Coll, M., Hiwot, T., Jones, S., Bembi, B., Hrbicek, M., Mengel, E., Crushell, E., Patterson, M. and Green, J. (2018). The International Niemann-Pick Disease Registry (INPDR) – A new model of patient-empowered data ownership and management. Molecular Genetics and Metabolism, 123(2), p.S68.

Imrie, J., Patterson, M., Green, J., Mathieson, T. and Bolton, S. (2019). Challenges of regulatory requirements for patient registries in different countries. Molecular Genetics and Metabolism, 126(2), pp.S77-S78.

Geberhiwot, T., Moro, A., Dardis, A., Ramaswami, U., Sirrs, S., Marfa, M., Vanier, M., Walterfang, M., Bolton, S., Dawson, C., Héron, B., Stampfer, M., Imrie, J., Hendriksz, C., Gissen, P., Crushell, E., Coll, M., Nadjar, Y., Klünemann, H., Mengel, E., Hrebicek, M., Jones, S., Ory, D., Bembi, B. and Patterson, M. (2018). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet Journal of Rare Diseases, 13(1).