Browsing by Subject "Fabry Disease"

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p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease

Ozelsancak, Ruya; Uyar, Bulent (2016)

Patient: Male, 39 Final Diagnosis: Fabry disease Symptoms: - Acropareshesia . fatique Medication: - Clinical Procedure: Gene analysis Specialty: Metabolic Disorders and Diabetics Objective: Rare ...