Literature DB >> 24553972

Cerebrotendinous xanthomatosis: an early diagnosis by biochemical tests.

Muralidar Laxmanrao Kulkarni1, M S Sreedhara, Sanjana Kalvehalli Kashinath, Akhil Muralidhar Kulkarni.   

Abstract

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Year:  2014        PMID： 24553972     DOI： 10.1007/s12098-013-1325-z

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Cerebrotendinous xanthomatosis.

Authors:  Mahesh Kamate; Vivek Chetal; Virupaxi Hattiholi
Journal:  Indian J Pediatr       Date:  2010-05-07       Impact factor: 1.967

Review 2.  Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

Authors:  G N Gallus; M T Dotti; A Federico
Journal:  Neurol Sci       Date:  2006-06       Impact factor: 3.307

3.  Cerebrotendinous xanthomatosis: treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings.

Authors:  J Peynet; A Laurent; P De Liege; P Lecoz; P Gambert; A Legrand; J Mikol; A Warnet
Journal:  Neurology       Date:  1991-03       Impact factor: 9.910

4.  Cholestanol induces apoptosis of cerebellar neuronal cells.

Authors:  K Inoue; S Kubota; Y Seyama
Journal:  Biochem Biophys Res Commun       Date:  1999-03-05       Impact factor: 3.575

Review 5.  Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy.

Authors:  Antonio Federico; Maria Teresa Dotti
Journal:  J Child Neurol       Date:  2003-09       Impact factor: 1.987
  5 in total

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