Literature DB >> 1212241

Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis.

G Salen, T W Meriwether, G Nicolau.   

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Year:  1975        PMID： 1212241     DOI： 10.1016/0006-2944(75)90020-4

Source DB:  PubMed          Journal:  Biochem Med        ISSN： 0006-2944


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  17 in total

1.  Case of cerebrotendinous xanthomatosis. I: Unusual ophthalmic features.

Authors:  S J Morgan; P McKenna; R C Bosanquet
Journal:  Br J Ophthalmol       Date:  1989-12       Impact factor: 4.638

2.  A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.

Authors:  Frédéric M Vaz; Albert H Bootsma; Willem Kulik; Aad Verrips; Ron A Wevers; Peter C Schielen; Andrea E DeBarber; Hidde H Huidekoper
Journal:  J Lipid Res       Date:  2017-03-17       Impact factor: 5.922

3.  Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

Authors:  J J Cali; C L Hsieh; U Francke; D W Russell
Journal:  J Biol Chem       Date:  1991-04-25       Impact factor: 5.157

4.  Cerebrotendinous xanthomatosis: a treatable hereditary neuro-metabolic disease.

Authors:  Ana Claudia Rodrigues de Cerqueira; Antônio Egídio Nardi; Jose Marcelo Ferreira Bezerra
Journal:  Clinics (Sao Paulo)       Date:  2010       Impact factor: 2.365

Review 5.  Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.

Authors:  Melissa D Svoboda; Jill M Christie; Yasemen Eroglu; Kurt A Freeman; Robert D Steiner
Journal:  Am J Med Genet C Semin Med Genet       Date:  2012-10-05       Impact factor: 3.908

6.  Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy.

Authors:  Germaine Pierre; Kenneth Setchell; Jacqueline Blyth; Mary Anne Preece; Anupam Chakrapani; Patrick McKiernan
Journal:  J Inherit Metab Dis       Date:  2008-12-27       Impact factor: 4.982

7.  Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Authors:  Claudia B Catarino; Christian Vollmar; Clemens Küpper; Klaus Seelos; Constanze Gallenmüller; Joanna Bartkiewicz; Saskia Biskup; Konstanze Hörtnagel; Thomas Klopstock
Journal:  J Neurol       Date:  2017-12-19       Impact factor: 4.849

Review 8.  Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).

Authors:  Gerald Salen; Robert D Steiner
Journal:  J Inherit Metab Dis       Date:  2017-10-04       Impact factor: 4.982

9.  Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The Netherlands.

Authors:  B J Koopman; B G Wolthers; J C van der Molen; W van der Slik; R J Waterreus; A van Spreeken
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

Review 10.  Inborn errors of bile acid metabolism.

Authors:  P T Clayton
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
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