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Quantification of Coenzyme A in Cells and Tissues
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Published on: September 27, 2019

Heterogeneidad clínica, bioquímica y genética en la deficiencia de la deshidrogenasa del acil-coenzima A de cadena

Bianca T van Maldegem1, Marinus Duran, Ronald J A Wanders

  • 1Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. b.t.vanmaldegem@amc.uva.nl

JAMA
|August 24, 2006
PubMed
Resumen

La deficiencia de la acil-coenzima de cadena corta A (CoA) deshidrogenasa (SCAD) es más común de lo que se pensaba anteriormente, con síntomas inespecíficos no vinculados a genotipos específicos. La evidencia actual sugiere que no es adecuado para los programas de detección de recién nacidos.

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