Literature DB >> 14572142

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

Antonio Federico1, Maria Teresa Dotti.   

Abstract

In this report, we review the clinical, biochemical, pathophysiologic, and therapeutic aspects of cerebrotendinous xanthomatosis. We stress the importance of early diagnosis and treatment. In addition, we describe our experience in treating patients with chenodeoxycholic acid, an essential drug for this disorder that is no longer available.

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 14572142     DOI： 10.1177/08830738030180091001

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  19 in total

1.  Cerebrotendinous xanthomatosis--the spectrum of imaging findings.

Authors:  Arunachalam Pudhiavan; Alka Agrawal; Sangit Chaudhari; Anil Shukla
Journal:  J Radiol Case Rep       Date:  2013-04-01

Review 2.  Ataxia.

Authors:  Umar Akbar; Tetsuo Ashizawa
Journal:  Neurol Clin       Date:  2015-02       Impact factor: 3.806

3.  Cerebrotendinous xanthomatosis: an early diagnosis by biochemical tests.

Authors:  Muralidar Laxmanrao Kulkarni; M S Sreedhara; Sanjana Kalvehalli Kashinath; Akhil Muralidhar Kulkarni
Journal:  Indian J Pediatr       Date:  2014-02-21       Impact factor: 1.967

4.  Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.

Authors:  Chen Chen; Yue Zhang; Hui Wu; Yi-Min Sun; Ye-Hua Cai; Jian-Jun Wu; Jian Wang; Ling-Yun Gong; Zheng-Tong Ding
Journal:  Metab Brain Dis       Date:  2017-06-17       Impact factor: 3.584

5.  A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.

Authors:  Andrea Mignarri; Gian Nicola Gallus; Maria Teresa Dotti; Antonio Federico
Journal:  J Inherit Metab Dis       Date:  2014-01-18       Impact factor: 4.982

6.  The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis.

Authors:  Francesca Rosini; Elena Pretegiani; Andrea Mignarri; Lance M Optican; Valeria Serchi; Nicola De Stefano; Marco Battaglini; Lucia Monti; Maria T Dotti; Antonio Federico; Alessandra Rufa
Journal:  J Physiol       Date:  2017-03-14       Impact factor: 5.182

7.  MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis.

Authors:  E K Embiruçu; M C G Otaduy; A K Taneja; C C Leite; Fernando Kok; L T Lucato
Journal:  AJNR Am J Neuroradiol       Date:  2010-02-11       Impact factor: 3.825

8.  Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis.

Authors:  A Mignarri; S Rossi; M Ballerini; G N Gallus; M Del Puppo; P Galluzzi; A Federico; M T Dotti
Journal:  J Neurol       Date:  2010-11-21       Impact factor: 4.849

9.  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 10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.