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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Executive summary of evidence-based clinical practice guideline for Fabry nephropathy
Su Hyun Kim1, Soo Jeong Choi2, Samel Park3
1Division of Nephrology, Department of Internal Medicine, Chung-Ang University Gwangmyeong Hospital, Chung-Ang University College of Medicine, Gwangmyeong, Republic of Korea.
Abstract:
The Academy of Fabry Disease in the Korean Society of Nephrology has developed evidence-based clinical practice guidelines to optimize the management and treatment of Fabry nephropathy. Although Fabry disease is a rare genetic disorder, the recent availability of effective therapeutic options, including enzyme replacement therapy and chaperone therapy, highlights the importance of early diagnosis and timely intervention. These guidelines were developed using the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology, with support from methodology experts. Clinical recommendations were derived through a systematic literature review addressing 11 key questions. These guidelines are intended to assist healthcare professionals, including nephrologists, in making informed, evidence-based clinical decisions to improve patient outcomes.
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