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Publications by Tim Salinger

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

Circulation: Cardiovascular Genetics

English

Related publications

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

Molecular Medicine

Molecular Medicine

Molecular Biology

English

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

Orphanet Journal of Rare Diseases

English

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

International Heart Journal

Cardiovascular Medicine

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

Multidisciplinary

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

Journal of Human Genetics

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

Journal of Inherited Metabolic Disease

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

Pediatric Research

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Replacement of Α-Galactosidase a in Fabry Disease: Effect on Fibroblast Cultures Compared With Biopsied Tissues of Treated Patients

Virchows Archiv

Forensic Medicine

Molecular Biology

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Structure-Function Relationships in Α-Galactosidase A

Acta Paediatrica, International Journal of Paediatrics

English