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Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review
Affiliation:1. Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan;2. Department of Information Management, National Sun Yat-Sen University, Kaohsiung, Taiwan;3. Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan;4. School of Traditional Chinese Medicine, Chang Gung University, Taoyuan, Taiwan;5. School of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan;1. Preventive Cardiology, Boca Raton, FL, USA;2. Lipoapheresis Unit, Fondazione CNR Toscana Gabriele Monasterio, Pisa, Italy;3. Lipid Unit, University Hospital Llandough, Penarth, Cardiff, United Kingdom;4. Division of Clinical Pharmacology, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA;5. Amgen Inc., One Amgen Center Drive, Thousand Oaks, CA, USA;6. Nephrological Center Villingen-Schwenningen, Villingen-Schwenningen, Germany;7. Extracorporeal Treatment and Lipoprotein Apheresis Center, Department of Internal Medicine III, University Hospital Carl Gustav Carus, Technische Universitaet, Dresden, Germany;1. Hayward Genetics Center, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA;2. Laboratory of Genetic, Metabolic and Endocrine Diseases, Radboud University Medical Centre Nijmegen, The Netherlands;3. Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands;4. Regional Medical Genetics Center, N.Y. Medical College, Valhalla, USA;1. School of Medicine, University of Utah, Salt Lake City, UT, USA;2. CHU de Nantes – Hôpital Nord Laennec, Saint-Herblain, France;3. Hôpital de la Pitié-Salpêtrière, Paris, France;4. Regeneron Pharmaceuticals, Inc., Tarrytown, NY, USA;1. Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, SE 141 86 Stockholm, Sweden;2. Karolinska Institute, Department of Neurobiology Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, 141 57 Stockholm, Sweden
Abstract:
Keywords:Cerebrotendinous xanthomatosis  Mutation  Suspicion index  Clinical features  Taiwanese
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