Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments-Reference-Cited by-同舟云学术

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Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments

Published:2021-09-01 Issue:9 Volume:28 Page:905-925
ISSN:1340-3478
Container-title:Journal of Atherosclerosis and Thrombosis
language:en
Short-container-title:JAT

Author:

Koyama Shingo¹,Sekijima Yoshiki²,Ogura Masatsune³,Hori Mika⁴,Matsuki Kota⁵,Miida Takashi⁶,Harada-Shiba Mariko⁷

Affiliation:

1. Division of Neurology and Clinical Neuroscience, Department of Internal Medicine III, Yamagata University Faculty of Medicine

2. Institute for Biomedical Sciences, Shinshu University

3. Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute

4. Department of Endocrinology, Research Institute of Environmental Medicine, Nagoya University

5. Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine

6. Department of Clinical Laboratory Medicine, Juntendo University Graduate School of Medicine

7. Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute

Publisher

Japan Atherosclerosis Society

Subject

Biochemistry, medical,Cardiology and Cardiovascular Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/jat/28/9/28_RV17055/_pdf

Reference164 articles.

1. 1) Cali JJ, Hsieh CL, Francke U, Russell DW: Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem, 1991; 266: 7779-7783

2. 2) Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP: Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain, 2000; 123: 908-919

3. 3) Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ: Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur J Neurol, 2011; 18: 1203-1211

4. 4) Mignarri A, Gallus GN, Dotti MT, Federico A: A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis, 2014; 37: 421-429

5. 5) Nie S, Chen G, Cao X, Zhang Y: Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis, 2014; 9: 179

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