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Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols.

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第一作者： Andrea E,DeBarber

第一单位： University Shared Resources, Oregon Health & Science University (OHSU), Portland, OR, United States of America (Dr DeBarber, Ms Redder and Ms Fowler). Electronic address: debarber@ohsu.edu.

作者： Andrea E,DeBarber ^[1] ; Ernst J,Schaefer ^[2] ; Jenny,Do ^[3] ; Joseph W,Ray ^[3] ; Austin,Larson ^[4] ; Samantha,Redder ^[5] ; Maya,Fowler ^[5] ; P Barton,Duell ^[6]

作者单位： University Shared Resources, Oregon Health & Science University (OHSU), Portland, OR, United States of America (Dr DeBarber, Ms Redder and Ms Fowler). Electronic address: debarber@ohsu.edu. ^[1] Boston Heart Diagnostics/Eurofins Scientific Network, Framingham, MA, United States of America and Department of Medicine, Tufts University School of Medicine, Boston, MA, United States of America (Dr Schaefer). ^[2] Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, United States of America (Ms Do and Dr Ray). ^[3] University of Colorado School of Medicine, Aurora, CO, United States of America (Dr Larson). ^[4] University Shared Resources, Oregon Health & Science University (OHSU), Portland, OR, United States of America (Dr DeBarber, Ms Redder and Ms Fowler). ^[5] Center for Preventive Cardiology, Knight Cardiovascular Institute & Division of Endocrinology, Diabetes & Clinical Nutrition, OHSU, Portland, OR, United States of America (Dr Duell). ^[6]

关键词 Bile acid synthesis Bile alcohol Biochemical diagnosis CYP27A1 Cholestanol

医学主题词人类(Humans);胆汁酸类和盐类(Bile Acids and Salts);鹅脱氧胆酸(Chenodeoxycholic Acid);胆甾烷醇(Cholestanol);胆甾烷醇类(Cholestanols);黄瘤病, 脑腱性(Xanthomatosis, Cerebrotendinous)

DOI 10.1016/j.jacl.2024.03.004

PMID 38637260

发布时间 2024-10-03

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