Diagnostic and comprehensive health care experience on Refsum disease at Hospital Pablo Tobón Uribe
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Abstract
Objective: To describe the clinical and diagnostic experience regarding Refsum disease of an interdisciplinary group focusing on children diagnosed with innate errors of metabolism. Type of study: Case report. Methods: Retrospective and systematic review of medical records and follow -up of a patient who was referred to HPTU with clinical suspicion of inborn error of metabolism, Refsum disease, who was included in the implementation of a comprehensive health care guideline of this disease. Conclusions: the use of a comprehensive diagnosis and therapeutic guideline of innate errors of metabolism approach facilitates early approach to the patient and give family support improving their quality of life.
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