Enfermedad de Tay-Sachs

Authors

  • Félix HIDALGO
  • Patricia CAMPOS
  • Juan TAKANO
  • Claudia UGARTE
  • Daniel PORTURAS
  • María MICHELENA

DOI:

https://doi.org/10.20453/rmh.v3i1.368

Abstract

La enfermedad de Tay-Sachs es la forma más común de neurolipidosis hereditaria, transtorno familiar que se presenta en judíos del este de Europa en una proporción de 1 en 360 casos y en no judíos en 1 en 6000 nacidos vivos. Se debe a una deficiencia de la
isoenzima BN –acetil hexosaminidasa, que produce una acumulación de gangliosido GM 2 intraneuronal (1).

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Published

2013-09-18

How to Cite

1.
HIDALGO F, CAMPOS P, TAKANO J, UGARTE C, PORTURAS D, MICHELENA M. Enfermedad de Tay-Sachs. Rev Méd Hered [Internet]. 2013 Sep. 18 [cited 2025 Feb. 4];3(1). Available from: http://44.198.254.164/index.php/RMH/article/view/368

Issue

Vol. 3 No. 1 (1992): enero-marzo

Section

BRIEF COMUNICATION

License

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