Phenotypic variability and the gender paradox in the R363C variant of Fabry disease

Keyphrases

• Fabry Disease 100%
• Phenotypic Variation 100%
• Gender Paradox 100%
• GLA Gene 40%
• X-linked 40%
• Three-level 40%
• Proband 40%
• GL(3) 40%
• Chronic Kidney Disease 20%
• Genetic Modifiers 20%
• Lysosomal Disease 20%
• Clinical Presentation 20%
• Disease Phenotype 20%
• Fabry 20%
• Disease Severity 20%
• Clinical Biomarkers 20%
• Migalastat 20%
• Clinical Symptoms 20%
• Young Female 20%
• Symptom Onset 20%
• Disease Expression 20%
• Clinical Severity 20%
• Hemizygous 20%
• Traditional View 20%
• X-linked Disorder 20%
• Pathogenic Variants 20%
• Oligosymptomatic 20%
• Severe Symptoms 20%
• 70 Years Old 20%
• Predicting Diseases 20%

Biochemistry, Genetics and Molecular Biology

• Fabry Disease 100%
• Proband 40%
• Genetics 20%