NDLI: Aportación de la resonancia magnética en el diagnóstico de la aciduria glutárica de tipo 1

Content Provider	Semantic Scholar
Author	Vara-Castrodeza, Alejandro Centeno-Malfaz, Fernando Beltran-Perez, A. I. Fuente-Bobillo, M. A. De La Mura-Tudelilla, J. M.
Copyright Year	2008
Abstract	REV NEUROL 2008; 47 (4): 215-217 215 La aciduria glutárica (AG) es una enfermedad metabólica rara, con herencia autosómica recesiva, producida por un déficit de la enzima glutaril-CoA deshidrogenasa. Suele manifestarse en niños previamente sanos como una encefalopatía aguda, asociada a distonía en niños con macrocefalia. La técnica diagnóstica fundamental es la resonancia magnética (RM) encefálica, que permite una alta sospecha diagnóstica de la patología.
Starting Page	215
Ending Page	217
Page Count	3
File Format	PDF HTM / HTML
Volume Number	47
Alternate Webpage(s)	http://www.neurologia.com/pdf/Web/4704/ba040215.pdf
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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