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. 2020 Jan 11;22:100562. doi: 10.1016/j.ymgmr.2019.100562

Table 3.

Summary of patients who were symptomatic for Fabry disease.

Patient ID Gender Mutation
Age at Aug. 2019 Age of onset Symptoms at onset Treatment
nucleic acid amino acid
1 M c.2 T > A p.M1K 10y2m 3y hypohidrosis, extremity pain at bath ERT from 5y
3 M c.128G > A p.G43D 6y7m 5y delayed enhanced cardiac MRI, Mulberry cells in urinary sediment ERT from 6y
53 M c.1072_1074
delGAG
p.E358del 9y10m 4y extremity pain, hypohidrosis ERT from 6y, carbamazepine from 8y