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Publications by Wladimir Mauhin
Strong Increase of Leukocyte Apha‐galactosidase a Activity in Two Male Patients With Fabry Disease Following Oral Chaperone Therapy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Related publications
Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After One Year
Clinical Pharmacology and Therapeutics
Pharmacology
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
Epidemiology
Nephrology
Critical Care
Transplantation
Intensive Care Medicine
Fabry Disease: Effective Tissue Substrate Depletion Following Enzyme Replacement in Α-Galactosidase a Deficient Mice. • 607
Pediatric Research
Child Health
Pediatrics
Perinatology
Alpha-Galactosidase a p.A143T, a Non-Fabry Disease-Causing Variant
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Adipocytes Participate in Storage in Α-Galactosidase Deficiency (Fabry Disease)
Journal of Inherited Metabolic Disease
Genetics
Replacement of Α-Galactosidase a in Fabry Disease: Effect on Fibroblast Cultures Compared With Biopsied Tissues of Treated Patients
Virchows Archiv
Medicine
Forensic Medicine
Pathology
Cell Biology
Molecular Biology
Receptor-Mediated Endocytosis of Α-Galactosidase a in Human Podocytes in Fabry Disease
PLoS ONE
Multidisciplinary
Reduction of Podocyte Globotriaosylceramide Content in Adult Male Patients With Fabry Disease With Amenable GLA Mutations Following 6 Months of Migalastat Treatment
Journal of Medical Genetics
Genetics
Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients With Fabry Disease
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
