Case Report
Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation
Table 1
Alpha-galactosidase levels and gene mutations of all cases.
| | α-GAL level | Gene mutation |
| Case 1 (F) | 0.03 (normal range >0.185 nmol/spot/21 h) | c.[758T>C] | Case 2 (M) | 0.06 (normal range >0.185 nmol/spot/21 h) | c.[902G>T] | Case 3 (F) | 0.2 (normal range >0.185 nmol/spot/21 h) | c.[902G>T] | Case 4 (F) | 1.7 (normal range >1.2 µmol/L/h) | c.[902G>T] |
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