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Results: 1 to 20 of 75

1.

Evidence for a role of sterol 27-hydroxylase in glucocorticoid metabolism in vivo.

Vögeli I, Jung HH, Dick B, Erickson SK, Escher R, Funder JW, Frey FJ, Escher G.

J Endocrinol. 2013 Oct 4;219(2):119-29. doi: 10.1530/JOE-13-0141. Print 2013 Nov.

PMID:
24096962
[PubMed - indexed for MEDLINE]
2.

Mutation in CYP27A1 identified in family with coronary artery disease.

Inanloorahatloo K, Zand Parsa AF, Huse K, Rasooli P, Davaran S, Platzer M, Fan JB, Amini S, Steemers F, Elahi E.

Eur J Med Genet. 2013 Dec;56(12):655-60. doi: 10.1016/j.ejmg.2013.09.008. Epub 2013 Sep 28.

PMID:
24080357
[PubMed - indexed for MEDLINE]
3.

Psychiatric manifestations in cerebrotendinous xanthomatosis.

Fraidakis MJ.

Transl Psychiatry. 2013 Sep 3;3:e302. doi: 10.1038/tp.2013.76. Review.

PMID:
24002088
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Tendon xanthomas as indicators of atherosclerotic burden on coronary arteries.

Patil S, Kharge J, Bagi V, Ramalingam R.

Indian Heart J. 2013 Jul-Aug;65(4):491-2. doi: 10.1016/j.ihj.2013.06.012. Epub 2013 Jul 6.

PMID:
23993019
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Cerebrotendinous xanthomatosis.

Björkhem I.

Curr Opin Lipidol. 2013 Aug;24(4):283-7. doi: 10.1097/MOL.0b013e328362df13. Review.

PMID:
23759795
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
23705046
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

The neuropsychiatry of inborn errors of metabolism.

Walterfang M, Bonnot O, Mocellin R, Velakoulis D.

J Inherit Metab Dis. 2013 Jul;36(4):687-702. doi: 10.1007/s10545-013-9618-y. Epub 2013 May 23. Review.

PMID:
23700255
[PubMed - indexed for MEDLINE]
8.

Blepharospasm as a new feature of cerebrotendinous xanthomatosis.

Lagarde J, Sedel F, Degos B.

Parkinsonism Relat Disord. 2013 Aug;19(8):764-5. doi: 10.1016/j.parkreldis.2013.04.003. Epub 2013 Apr 25. No abstract available.

PMID:
23623195
[PubMed - indexed for MEDLINE]
9.

Metabolic neuropathies and myopathies.

D'Amico A, Bertini E.

Handb Clin Neurol. 2013;113:1437-55. doi: 10.1016/B978-0-444-59565-2.00013-7. Review.

PMID:
23622366
[PubMed - indexed for MEDLINE]
10.

Hereditary ataxias: overview.

Jayadev S, Bird TD.

Genet Med. 2013 Sep;15(9):673-83. doi: 10.1038/gim.2013.28. Epub 2013 Mar 28. Review.

PMID:
23538602
[PubMed - indexed for MEDLINE]
11.

Cerebrotendinous xanthomatosis presenting with bilateral achilles tendon xanthomata: a case report.

Mirzanli C, Esenyel CZ, Ozturk K, Baris A, Imren Y.

J Am Podiatr Med Assoc. 2013 Mar-Apr;103(2):152-5.

PMID:
23536508
[PubMed - indexed for MEDLINE]
12.

'Hot cross bun' sign in a case of cerebrotendinous xanthomatosis: a rare neuroimaging observation.

Jain RS, Sannegowda RB, Agrawal A, Hemrajani D, Jain R, Mathur T.

BMJ Case Rep. 2013 Feb 14;2013. pii: bcr2012006641. doi: 10.1136/bcr-2012-006641.

PMID:
23417372
[PubMed - indexed for MEDLINE]
13.

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.

Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS.

Ophthalmology. 2013 May;120(5):956-60. doi: 10.1016/j.ophtha.2012.10.032. Epub 2013 Jan 31.

PMID:
23375591
[PubMed - indexed for MEDLINE]
14.

Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment.

Martini G, Mignarri A, Ruvio M, Valenti R, Franci B, Del Puppo M, Federico A, Nuti R, Dotti MT.

Calcif Tissue Int. 2013 Mar;92(3):282-6. doi: 10.1007/s00223-012-9677-3. Epub 2012 Dec 2.

PMID:
23212544
[PubMed - indexed for MEDLINE]
15.

Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.

Caroppo P, D'Agata F, Mignarri A, Stromillo ML, Dotti MT, Mongini T.

Neurol Sci. 2013 Sep;34(9):1693-6. doi: 10.1007/s10072-012-1262-z. Epub 2012 Dec 5. No abstract available.

PMID:
23212406
[PubMed - indexed for MEDLINE]
16.

Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.

Rubio-Agusti I, Kojovic M, Edwards MJ, Murphy E, Chandrashekar HS, Lachmann RH, Bhatia KP.

Mov Disord. 2012 Dec;27(14):1769-74. doi: 10.1002/mds.25229. Epub 2012 Nov 2. Review.

PMID:
23124517
[PubMed - indexed for MEDLINE]
17.

Myoclonus and dystonia in cerebrotendinous xanthomatosis.

Lagarde J, Roze E, Apartis E, Pothalil D, Sedel F, Couvert P, Vidailhet M, Degos B.

Mov Disord. 2012 Dec;27(14):1805-10. doi: 10.1002/mds.25206. Epub 2012 Oct 31. Review.

PMID:
23115103
[PubMed - indexed for MEDLINE]
18.

Five decades with oxysterols.

Björkhem I.

Biochimie. 2013 Mar;95(3):448-54. doi: 10.1016/j.biochi.2012.02.029. Epub 2012 Mar 1. Review.

PMID:
23111110
[PubMed - indexed for MEDLINE]
19.

Two siblings with cerebrotendinous xanthomatosis.

Kottahachchi DC, Balasooriya BL, Panangala L, Ranawaka UK.

Ceylon Med J. 2012 Sep;57(3):128-9. doi: 10.4038/cmj.v57i3.4708. No abstract available.

PMID:
23086033
[PubMed - indexed for MEDLINE]
Free Article
20.

Summarizing phenotype evolution patterns from report cases.

Taboada M, Alvarez V, Martínez D, Pilo B, Robinson PN, Sobrido MJ.

J Med Syst. 2012 Nov;36 Suppl 1:S25-36. doi: 10.1007/s10916-012-9887-2. Epub 2012 Oct 20.

PMID:
23085966
[PubMed - indexed for MEDLINE]

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