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Publications by Isidro Franco‐Álvarez
Renal Globotriaosylceramide Deposits for Fabry Disease Linked to Uncertain Pathogenicity Gene Variant c.352C>T/p.Arg118Cys: A Family Study
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Related publications
Erratum To: Immunohistochemical Diagnosis of Fabry Nephropathy and Localisation of Globotriaosylceramide Deposits in Paraffin-Embedded Kidney Tissue Sections
Virchows Archiv
Medicine
Forensic Medicine
Pathology
Cell Biology
Molecular Biology
Prevalence of Fabry Disease and GLA C.196G>C Variant in Japanese Stroke Patients
Journal of Human Genetics
Genetics
'A Variant of Uncertain Significance' and the Proliferation of Human Disease Gene Databases
Human Genomics
Molecular Medicine
Drug Discovery
Genetics
Molecular Biology
Alpha-Galactosidase a p.A143T, a Non-Fabry Disease-Causing Variant
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
A Liquid Chromatography-Quadrupole-Time-Of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse
Pharmaceutics
Pharmaceutical Science
Clinical Utility Gene Card For: Fabry Disease
European Journal of Human Genetics
Genetics
Renal Involvement in Fabry''s Disease
Internal Medicine
Internal Medicine
Medicine
Progressive Podocyte Injury and Globotriaosylceramide (GL-3) Accumulation in Young Patients With Fabry Disease
Kidney International
Nephrology
Addressing Variant Pathogenicity: The TorsinA (TOR1A) Gene as a Model
Human Mutation
Genetics
