Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.

An analysis exploring genotype–phenotype relationships found a highly significant correlation between age at entry into FOS and severity score, as well as between age at entry into FOS and the number of organs affected in male patients with missense mutations, suggestive of important associations between genotype and disease severity [ 33 ].

also in 132,142 other papers