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Items: 1 to 20 of 159

1.

Cerebrotendinous xanthomatosis--the spectrum of imaging findings.

Pudhiavan A, Agrawal A, Chaudhari S, Shukla A.

J Radiol Case Rep. 2013 Apr 1;7(4):1-9. doi: 10.3941/jrcr.v7i4.1338. Print 2013 Apr.

2.

Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.

Yoshinaga T, Sekijima Y, Koyama S, Maruyama K, Yoshida T, Kato T, Ikeda S.

Intern Med. 2014;53(23):2725-9. Epub 2014 Dec 1.

3.

Cerebrotendinous xanthomatosis presenting with bilateral Achilles tendon xanthomata.

Smithard A, Lamyman MJ, McCarthy CL, Gibbons CL, Cooke PJ, Athanasou N.

Skeletal Radiol. 2007 Feb;36(2):171-5. Epub 2006 May 20.

PMID:
16715243
4.

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

Razi SM, Gupta AK, Gupta DC, Gutch M, Gupta KK, Usman SI.

J Med Case Rep. 2016 Apr 19;10(1):103. doi: 10.1186/s13256-016-0882-y.

5.

[Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon].

Zacherl M, Sourij H, Beham A, Emberger W, Leithner A, Windhager W.

Orthopade. 2008 Jul;37(7):704-8. doi: 10.1007/s00132-008-1275-8. German.

PMID:
18483801
6.

Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome.

Ostrowska M, Banaszkiewicz K, Kiławiec A, Róg T, Lütjohann D, Szczudlik A.

Neurol Neurochir Pol. 2011 Nov-Dec;45(6):600-3.

PMID:
22212991
7.

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.

Nie S, Chen G, Cao X, Zhang Y.

Orphanet J Rare Dis. 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. Review.

8.

Cerebrotendinous xanthomatosis in three siblings from a Chinese family.

Ko KF, Lee KW.

Singapore Med J. 2001 Jan;42(1):30-2.

PMID:
11361235
9.

[Cerebrotendinous xanthomatosis is a rare disorder, which requires a specific treatment].

Blaabjerg M, Marjanovic D.

Ugeskr Laeger. 2013 Jan 28;175(5):285-6. Danish.

PMID:
23369332
10.

[Cerebrotendinous xanthomatosis, a treatable metabolic disorder].

Heller R, Grau AJ, Schäbitz WR, Schwaninger M.

Nervenarzt. 2002 Dec;73(12):1160-6. German.

PMID:
12486565
11.

[Cerebrotendinous xanthomatosis: report of 4 patients].

Ferrándiz-Pulido C, Bartralot R, Girós M, Bassas P, Heras C, Bodet D, Savall R, García-Patos V.

Actas Dermosifiliogr. 2009 Apr;100(3):222-6. Spanish.

PMID:
19457308
12.

Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.

Verrips A, van Engelen BG, Wevers RA, van Geel BM, Cruysberg JR, van den Heuvel LP, Keyser A, Gabreëls FJ.

Arch Neurol. 2000 Apr;57(4):520-4. Review.

PMID:
10768627
13.

[Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].

Zhang L, Zhang L, Nian N, Yu X, Shi Y, Yan Y, Sun D, Cheng N, Wang X, Yang R.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):476-80. doi: 10.3760/cma.j.issn.1003-9406.2016.04.010. Chinese.

PMID:
27455001
14.

Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress.

Gonzalez-Cuyar LF, Hunter B, Harris PL, Perry G, Smith MA, Castellani RJ.

Redox Rep. 2007;12(3):119-24.

PMID:
17623518
15.

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.

Mignarri A, Gallus GN, Dotti MT, Federico A.

J Inherit Metab Dis. 2014 May;37(3):421-9. doi: 10.1007/s10545-013-9674-3. Epub 2014 Jan 18.

PMID:
24442603
16.

[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].

Delstanche S, Deflandre T, Otto B, Tshibanda L, Simoni P, Moonen G.

Rev Med Liege. 2013 Apr;68(4):171-6. French.

17.

Could steroids mask the diagnosis of cerebrotendinous xanthomatosis?

Siman-Tov T, Meiner V, Gadoth N.

J Neurol Sci. 2006 Apr 15;243(1-2):83-6. Epub 2006 Jan 30.

PMID:
16445943
18.

Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.

Suh S, Kim HK, Park HD, Ki CS, Kim MY, Jin SM, Kim SW, Hur KY, Kim KW, Kim JH.

Eur J Med Genet. 2012 Jan;55(1):71-4. doi: 10.1016/j.ejmg.2011.08.003. Epub 2011 Sep 16.

PMID:
21958693
19.

[Cerebrotendinous xanthomatosis].

Baumgartner RW, Hauser V, Grob P, Waespe W.

Schweiz Med Wochenschr. 1991 Jun 8;121(23):858-64. German.

PMID:
1857943
20.

The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease.

Rosafio F, Cavallieri F, Guaraldi P, Taroni F, Nichelli PF, Mandrioli J.

Clin Neurol Neurosurg. 2016 Apr;143:1-3. doi: 10.1016/j.clineuro.2016.01.032. Epub 2016 Feb 4.

PMID:
26874936

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