Literature DB >> 29095540

Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.

H Jiao1, M Olin2, M Hansson2, G Eggertsen2, M Eriksson3,4, B Angelin3,4, I Björkhem2.   

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Year:  2017        PMID： 29095540     DOI： 10.1111/joim.12709

Source DB:  PubMed          Journal:  J Intern Med        ISSN： 0954-6820            Impact factor:   8.989


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  2 in total

1.  Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.

Authors:  Joep L A Claesen; Erik Koomen; Imre F Schene; Judith J M Jans; Natalia Mast; Irina A Pikuleva; Maria van der Ham; Monique G M de Sain-van der Velden; Sabine A Fuchs
Journal:  J Inherit Metab Dis       Date:  2020-02-07       Impact factor: 4.982

2.  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
  2 in total

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