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One of the clinical issues associated with renal Fabry disease is the low therapeutic efficacy of ERT when treatment is started in the advanced stages 11,12

Living with a complex chronic illness like Long COVID, ME/CFS, or dysautonomia is an exhausting, unpredictable journey that tests your physical and emotional resilience daily

Whole-genome sequencing reveals large ATP8B1 deletion/duplications as second mutations missed by exome-based sequencing

48/96 (50%) children had 2 samples positive for BDG and 25/96 (26%) were diagnosed with FI

10.1016/j.phymed.2023.154756 282 LiuX.LiZ.LiM.ChaiJ.HeS.WuJ.et al (2020b)