High-Risk Screening of Fabry Disease: Analysis of Fifteen Urinary Methylated and Non-Methylated Gb3 Isoforms Using Tandem Mass Spectrometry
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Fabry disease is a multisystemic, X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and resulting in the accumulation of glycosphingolipids in different tissues and biological fluids. Glycosphingo... ...
