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Similar articles for PubMed (Select 15061585)

1.

Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.

Moghadasian MH.

Clin Invest Med. 2004 Feb;27(1):42-50. Review.

PMID:
15061585
2.

[Cerebrotendinous xanthomatosis, a treatable metabolic disorder].

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

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

PMID:
12486565
3.

Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.

Lamon-Fava S, Schaefer EJ, Garuti R, Salen G, Calandra S.

Clin Genet. 2002 Mar;61(3):185-91.

PMID:
12000359
4.
5.

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
6.

Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX.

Honda A, Salen G, Matsuzaki Y, Batta AK, Xu G, Leitersdorf E, Tint GS, Erickson SK, Tanaka N, Shefer S.

J Lipid Res. 2001 Feb;42(2):291-300.

7.

Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans.

Björkhem I, Leitersdorf E.

Trends Endocrinol Metab. 2000 Jul;11(5):180-3. Review.

PMID:
10856919
8.
9.

Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge.

Björkhem I, Hansson M.

Biochem Biophys Res Commun. 2010 May 21;396(1):46-9. doi: 10.1016/j.bbrc.2010.02.140. Review.

PMID:
20494109
10.

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
11.

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
12.

Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).

Kim KS, Kubota S, Kuriyama M, Fujiyama J, Björkhem I, Eggertsen G, Seyama Y.

J Lipid Res. 1994 Jun;35(6):1031-9.

13.

Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene.

Chen W, Kubota S, Nishimura Y, Nozaki S, Yamashita S, Nakagawa T, Kameda-Takemura K, Menju M, Matsuzawa Y, Björkhem I, Eggertsen G, Seyama Y.

Biochim Biophys Acta. 1996 Nov 15;1317(2):119-26.

14.

A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis.

Ahmed MS, Afsar S, Hentati A, Ahmad A, Pasha J, Juneja T, Hung WY, Ahmad A, Choudhri A, Saya S, Siddique T.

Neurology. 1997 Jan;48(1):258-60.

PMID:
9008528
15.

[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].

Varga VE, Katkó M, Harangi J, Balogh I, Kapás I, Madar L, Seres I, Molnár MJ, Paragh G, Kovács GG, Harangi M.

Orv Hetil. 2014 May 25;155(21):811-6. doi: 10.1556/OH.2014.29887. Review. Hungarian.

PMID:
24836315
16.
17.

Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.

Hansson M, Olin M, Floren CH, von Bahr S, van't Hooft F, Meaney S, Eggertsen G, Björkhem I.

J Intern Med. 2007 May;261(5):504-10.

PMID:
17444890
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: 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
20.

Cholestanol metabolism, molecular pathology, and nutritional implications.

Seyama Y.

J Med Food. 2003 Fall;6(3):217-24. Review.

PMID:
14585188
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