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Publications by G. A. Ashley

Fabry Disease: Twenty Novel Α-Galactosidase a Mutations Causing the Classical Phenotype

Journal of Human Genetics

English

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Fabry Disease: Twenty Novel Α-Galactosidase a Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes

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Alpha-Galactosidase a p.A143T, a Non-Fabry Disease-Causing Variant

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Adipocytes Participate in Storage in Α-Galactosidase Deficiency (Fabry Disease)

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Receptor-Mediated Endocytosis of Α-Galactosidase a in Human Podocytes in Fabry Disease

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Novel Α-Galactosidase a Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease

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A Classical Phenotype of Anderson-Fabry Disease in a Female Patient With Intronic Mutations of the GLA Gene: A Case Report

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Fabry Disease: Effective Tissue Substrate Depletion Following Enzyme Replacement in Α-Galactosidase a Deficient Mice. • 607

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Α-Galactosidase a Genotype N215S Induces a Specific Cardiac Variant of Fabry DiseaseCLINICAL PERSPECTIVE

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Cardiac Phenotype of Prehypertrophic Fabry Disease

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