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Decision-making algorithm in the diagnosis of Fabry disease

(Source: Ezgu F, Alpsoy E, Bicik Bahcebasi Z, et al. Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective. Orphanet J Rare Dis 2022;17[1]:90. Creative Commons Attribution 4.0 International License, Adapted from: Lidove O, Kaminsky P, Hachulla E, et al. Fabry disease “The New Great Imposter”: results of the French Observatoire in internal medicine departments [FIMeD]. Clin Genet 2012;81[6]:571-7.)

Associated Disorders

  • Atypical heterozygotes
  • Autonomic neuropathy
  • Cerebral infarction
  • Glycosphingolipidosis
  • Hypertrophic cardiomyopathy
  • Myocardial infarction
  • Renal failure