Literature DB >> 30278298

Cerebrotendinous xanthomatosis presenting with extensive cerebral cortex symptoms: A case report.

Akihiro Mukaino1, Mayumi Tsuda2, Satoshi Yamashita3, Takayuki Kosaka4, Kuniyasu Wada5, Yukio Ando6.   

Abstract

Entities:  

Keywords:  CYP27A1; Cerebrotendinous xanthomatosis; Extensive cerebral cortex symptoms; Gene; Magnetic resonance spectroscopy

Mesh：

Year:  2018        PMID： 30278298     DOI： 10.1016/j.clineuro.2018.09.028

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  2 in total

Review 1.  The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature.

Authors:  Chi Ma; Yan-De Ren; Jia-Chen Wang; Cheng-Jian Wang; Ji-Ping Zhao; Tong Zhou; Hua-Wei Su
Journal:  Medicine (Baltimore)       Date:  2021-03-05       Impact factor: 1.817

2.  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
  2 in total

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