Literature DB >> 15257383

[Cerebrotendinous xanthomatosis--a treatable metabolic disorder].

J P Sperhake, J Matschke.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15257383     DOI： 10.1007/s00115-003-1500-y

Source DB:  PubMed          Journal:  Nervenarzt        ISSN： 0028-2804            Impact factor:   1.214


× No keyword cloud information.
  3 in total

1.  Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.

Authors:  J P Sperhake; J Matschke; U Orth; A Gal; K Püschel
Journal:  Int J Legal Med       Date:  2000       Impact factor: 2.686

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

Authors:  M S Ahmed; S Afsar; A Hentati; A Ahmad; J Pasha; T Juneja; W Y Hung; A Ahmad; A Choudhri; S Saya; T Siddique
Journal:  Neurology       Date:  1997-01       Impact factor: 9.910

3.  Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.

Authors:  R Garuti; M A Croce; R Tiozzo; M T Dotti; A Federico; S Bertolini; S Calandra
Journal:  J Lipid Res       Date:  1997-11       Impact factor: 5.922
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.