Literature DB >> 25567502

Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis.

M Brienza1, G Fiermonte, C Cambieri, A Mignarri, M T Dotti, M Fiorelli.   

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Year:  2015        PMID: 25567502     DOI: 10.1007/s10545-014-9805-5

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  1 in total

1.  Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.

Authors:  V M Berginer; G Salen; S Shefer
Journal:  N Engl J Med       Date:  1984-12-27       Impact factor: 91.245

  1 in total
  4 in total

Review 1.  Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).

Authors:  Gerald Salen; Robert D Steiner
Journal:  J Inherit Metab Dis       Date:  2017-10-04       Impact factor: 4.982

2.  c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.

Authors:  Jingwen Jiang; Guang Chen; Jingying Wu; Xinghua Luan; Haiyan Zhou; Xiaoli Liu; Zeyu Zhu; Xiaoxuan Song; Shige Wang; Xiaohang Qian; Juanjuan Du; Xiaojun Huang; Mei Zhang; Wei Xu; Li Cao
Journal:  Front Genet       Date:  2020-07-01       Impact factor: 4.599

3.  Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.

Authors:  Lan-Xiao Cao; Mi Yang; Ying Liu; Wen-Ying Long; Guo-Hua Zhao
Journal:  World J Clin Cases       Date:  2020-11-06       Impact factor: 1.337

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

Authors:  Shingo Koyama; Yoshiki Sekijima; Masatsune Ogura; Mika Hori; Kota Matsuki; Takashi Miida; Mariko Harada-Shiba
Journal:  J Atheroscler Thromb       Date:  2021-05-08       Impact factor: 4.928

  4 in total

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