Literature DB >> 23242084

Ataxia telangiectasia: learning from previous mistakes.

Naveen Kumar1, Puneet Aggarwal, Nishanth Dev, Gunjan Kumar.   

Abstract

Ataxia telangiectasia is an early onset neurodegenerative disorder. We report a case of childhood onset ataxia and ocular telangiectasia, presenting with pulmonary infection. The patient was diagnosed as ataxia telangiectasia. The patient succumbed to death owing to late diagnosis and sepsis.

Entities:  

Mesh：

Year:  2012        PMID： 23242084      PMCID： PMC4544110          DOI： 10.1136/bcr-2012-007246

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  4 in total

1.  Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia.

Authors:  M A Lefton-Greif; T O Crawford; J A Winkelstein; G M Loughlin; C B Koerner; M Zahurak; H M Lederman
Journal:  J Pediatr       Date:  2000-02       Impact factor: 4.406

2.  Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

Authors:  E BODER; R P SEDGWICK
Journal:  Pediatrics       Date:  1958-04       Impact factor: 7.124

3.  Mortality rates among carriers of ataxia-telangiectasia mutant alleles.

Authors:  Y Su; M Swift
Journal:  Ann Intern Med       Date:  2000-11-21       Impact factor: 25.391

4.  The incidence and gene frequency of ataxia-telangiectasia in the United States.

Authors:  M Swift; D Morrell; E Cromartie; A R Chamberlin; M H Skolnick; D T Bishop
Journal:  Am J Hum Genet       Date:  1986-11       Impact factor: 11.025
  4 in total
  1 in total

1.  The natural history of ataxia-telangiectasia (A-T): A systematic review.

Authors:  Emily Petley; Alexander Yule; Shaun Alexander; Shalini Ojha; William P Whitehouse
Journal:  PLoS One       Date:  2022-03-15       Impact factor: 3.752
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.