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Article History

Received: 6 December 2023

Revised: 26 April 2024

Accepted: 20 June 2024

First Online: 27 June 2024

Competing interests

: GH have received travel and meeting support from Shire/Takeda and Genzyme/Sanofi. ML is involved in a premarketing studies concerning Fabry disease with Genzyme/Sanofi, Protalix/Chiesi and Idorsia. Financial arrangements were made through AMC Research BV. No fees, travel support or grants were obtained from pharmaceutical Industry. JPO is a long-time member of the European Advisory Board of the Fabry Registry, sponsored by Genzyme/Sanofi, and have received consulting honoraria from Amicus, Chiesi, Sanofi and Takeda, and speaker fees from Sanofi and Takeda. He has also received travel and accommodation support from Amicus, Genzyme/Sanofi and Shire/Takeda, and research funding from Genzyme/Sanofi.

: Ethical approval was not obtained since identification of individuals in the two tables is impossible, including the drawing of pedigrees. The data in the two tables are of anonymous nature and cannot be traced back to individuals or families. For the most detailed data (Table ), consent was obtained, for the less detailed data (Table ), consent was not required under the local regulatory system. Both variants presented (Arg112His in Table and Met42Leu in Table ) are quite common in gnomAD version 4.1 (with 22 and 5 entries, respectively).