Literature DB >> 8852005

[Ataxia telangiectasia: review of 13 new cases].

O Valbuena1, P Póo, J Campistol, A Vernet, E Fernández-Alvarez, I Sierra, E Gean.   

Abstract

We report the review of 13 patients who were diagnosed of ataxia telangiectasia before 6 years of age. All of them manifested cerebelous ataxia, oculocutaneus telangiectasias (11), sinopulmonary infections (9), dystonia (9), oculomotor apraxia (9) and Burkitt linfoma (1). We analyse the most common presentation of the disease in early stages and the complementary studies performed. The prompt diagnosis allow us a better control of infections, malignant process and finally the possibility of genetic counseling.

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Year:  1996        PMID: 8852005

Source DB:  PubMed          Journal:  Rev Neurol        ISSN: 0210-0010            Impact factor:   0.870


  3 in total

1.  Progressive gait instability in a young girl; what will happen at the end?

Authors:  Osama S M Amin
Journal:  BMJ Case Rep       Date:  2012-09-17

2.  Detection of acute lymphoblastic leukemia involvement in pleural fluid in an adult patient with ataxia telangiectasia by flow cytometry method.

Authors:  Muzaffer Keklik; M Yavuz Koker; Serdar Sivgin; Demet Camlica; Cigdem Pala; Mustafa Cetin; Leylagul Kaynar; Ali Unal; Bulent Eser
Journal:  Indian J Hematol Blood Transfus       Date:  2013-04-26       Impact factor: 0.900

3.  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

  3 in total

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