| 2025 |
Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry Disease |
Articolo in rivista |
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| 2025 |
Identification of Novel Mutations in Patients Affected by Gaucher Disease |
Articolo in rivista |
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| 2015 |
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene |
Articolo in rivista |
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| 2012 |
A classical phenotype of Anderson-Fabry disease
in a female patient with intronic mutations of the GLA gene: a case report |
Articolo in rivista |
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| 2012 |
Familial Mediterranean Fever (FMF) or Fabry disease?
Genetic analysis and study of GLA as “modifier gene” of FMF |
Tesi di dottorato pre 2013 |
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