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Year | Number of Results |
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1997 | 1 |
2000 | 1 |
2015 | 1 |
2017 | 1 |
2024 | 0 |
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Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.
J Lipid Res. 1997 Nov;38(11):2322-34.
J Lipid Res. 1997.
PMID: 9392430
Free article.
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP.
Verrips A, et al.
Brain. 2000 May;123 ( Pt 5):908-19. doi: 10.1093/brain/123.5.908.
Brain. 2000.
PMID: 10775536
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Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.
Dutta AK, Danda S, Muthusamy K, Alexander M, Sudhakar SV, Hansdak S, Bandyopadhyay R, Bakhya Shree GB, Rekha L.
Dutta AK, et al.
Mol Genet Metab Rep. 2015 Mar 23;3:33-5. doi: 10.1016/j.ymgmr.2015.03.002. eCollection 2015 Jun.
Mol Genet Metab Rep. 2015.
PMID: 26937392
Free PMC article.
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Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.
Wejjakul W, Chatmaitri S, Wattanarojanaporn T, Pongkunakorn A, Ittiwut C, Shotelersuk V.
Wejjakul W, et al.
J Orthop Case Rep. 2017 Sep-Oct;7(5):54-58. doi: 10.13107/jocr.2250-0685.894.
J Orthop Case Rep. 2017.
PMID: 29242796
Free PMC article.
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