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Publications by Helena Poupětová

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

English

Related publications

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

Pediatric Research

English

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

Journal of Inherited Metabolic Disease

English

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

Multidisciplinary

English

Modeling the Effect of Enzyme Replacement Therapy on Life-Threatening Complications in Patients With Fabry Disease

PHARMACOECONOMICS. Modern pharmacoeconomics and pharmacoepidemiology

English

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

Journal of Human Genetics

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

English

Screening for Fabry Disease in Patients With Chronic Kidney Disease: Limitations of Plasma -Galactosidase Assay as a Screening Test

Clinical Journal of the American Society of Nephrology

Transplantation

Intensive Care Medicine

English

Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients With Fabry Disease

Journal of the American Society of Nephrology : JASN

English

Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients With Fabry Disease

Journal of the American Society of Nephrology : JASN

English