Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 146

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.

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
3.

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.

4.

[Cerebrotendinous xanthomatosis, a treatable metabolic disorder].

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

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

PMID:
12486565
5.

Cerebrotendinous xanthomatosis in three siblings from a Chinese family.

Ko KF, Lee KW.

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

PMID:
11361235
6.

[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
7.

[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
8.

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
9.

[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
10.

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
11.

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
12.

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
13.

[Cerebrotendinous xanthomatosis].

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

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

PMID:
1857943
14.

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.

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.

[Imaging of cerebrotendinous xanthomatosis].

Nagi S, Bouchriha M, Sebaï R, Marrakchi-Turki Z, Zouaoui W, Mrabet H, Megdiche H, Ben Slama C, Touibi S.

J Radiol. 2006 Dec;87(12 Pt 1):1883-6. French.

17.

[Cerebrotendinous xanthomatosis: utility of nuclear magnetic resonance image in the follow-up and response to treatment].

Cuende E, Gómez-Rz de Mendarozqueta M, Vesga JC, Saracíbar N, Ibáñez-Avilés A, Castellano-Hurtado C.

Rev Neurol. 1996 Dec;24(136):1535-8. Spanish.

PMID:
9064170
18.

Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.

Mukherjee AA, Chawla BP, Rathi SS, Puthran RS.

J Assoc Physicians India. 2007 Sep;55:655-7.

PMID:
18051740
19.

Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease.

Keren Z, Falik-Zaccai TC.

Pediatr Endocrinol Rev. 2009 Sep;7(1):6-11. Review.

PMID:
19696711
20.

Inherited cholesterol lipidosis: cerebrotendinous xanthomatosis (van Bogaert Scherer Epstein disease). A clinicopathological study.

Isenhardt K, Schmitt R, Nagel A, Drach L, Schlote W.

Clin Neuropathol. 2005 Nov-Dec;24(6):276-83.

PMID:
16320823
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk