Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry

Enzymatic Defect in Fabry's Disease

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High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

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Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

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Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset<i>GLA</i>mutation c.936+919G&gt;A (IVS4+919G&gt;A)

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