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• W2587384323 abstract "We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the <i>GLA</i> gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family." @default.
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• W2587384323 date "2017-01-01" @default.
• W2587384323 modified "2023-09-23" @default.
• W2587384323 title "Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the <b><i>GLA</i></b> Gene Associated with the Classical Phenotype of Fabry Disease" @default.
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• W2587384323 doi "https://doi.org/10.1159/000455117" @default.
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