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Familial hypobetalipoproteinemia caused by homozygous loss-of-function mutations in PCSK9: A case report
Affiliation:1. Department of Endocrinology and Diabetes, Hachinohe City Hospital, Hachinohe, Japan (Kudo);2. Department of Internal Medicine, Self-Defense Forces Fukuoka Hospital, Kasuga, Japan (Sasaki);3. Department of Cardiology, Kanazawa University Graduate School of Medicine, Kanazawa, Japan (Tada);1. Clinical Research Department, Mochida Pharmaceutical Co., Ltd., 1-22 Yotsuya, Shinjuku-ku, Tokyo, 160-0004, Japan (Mori and Yokoyama);2. Department of Cardiology, Tokyo Women''s Medical University, 8-1, Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan (Murasaki);1. Cardiology Department, Hospital Clínico San Carlos, IDISSC, Facultad de Medicina, Universidad Complutense, Madrid, Spain (Dr de Isla);2. Fundación Hipercolesterolemia Familiar, Madrid, Spain (Drs de Isla, Alonso, and Mata);3. Center for Advanced Metabolic Medicine and Nutrition, Santiago, Chile (Dr Alonso);4. Department of Endocrinology, Hospital Universitario Lucus Augusti, Lugo, Spain (Dr Argüeso);5. Internal Medicine Department, Hospital Virgen del Rocío, Sevilla, Spain (Dr Muñiz-Grijalvo);6. Department of Endocrinology, Hospital Universitario de Burgos, Burgos, Spain (Dr Álvarez-Baños);7. ICCC Cardiovascular, Institut de Recerca del Hospital Santa Creu i Sant Pau, IIB Santa Pau, Barcelona, Spain (Dr Badimón);8. Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, School of Medicine, University of Western Australia, Perth, Australia (Dr Watts);1. Clinical Research Department, Mochida Pharmaceutical Co., Ltd., 1-22 Yotsuya, Shinjuku-ku, Tokyo 160-0004, Japan (Hayashi, Mori and Yokoyama);2. Department of Cardiology, Tokyo Women''s Medical University, 8-1, Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan (Murasaki);1. University of Pittsburgh School of Public Health, Public Health Building, 130 De Soto St, Pittsburgh, PA 15261, USA (Drs Khoudary, Chen, Brooks, and Orchard);2. University of Michigan Department of Epidemiology, 1415 Washington Heights, Ann Arbor, MI 48109, USA (Dr McConnell);3. University of Pennsylvania Perelman School of Medicine, 3400 Civic Center Blvd, Philadelphia, PA 19104, USA (Dr Billheimer)
Abstract:
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