09 May 2016 : Case report
p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease
Challenging differential diagnosis, Unusual or unexpected effect of treatment, Diagnostic / therapeutic accidents, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis), Rare coexistence of disease or pathology
DOI: 10.12659/AJCR.897024
Am J Case Rep 2016; 17:315-319