• Differential HMG‐CoA lyase expression in human tissues provides clues about 3‐hydroxy‐3‐methylglutaric aciduria 

      Puisac, Beatriz; Arnedo, María; Casale, César H.; Ribate, María Pilar; Castiella, Tomás; Ramos, Feliciano J.; Ribes, Antònia; Pérez-Cerdá, Celia; Casals i Farré, Núria; Hegardt, Fausto G.; Pié, Juan (Journal of Inherited Metabolic Disease, 2010)
      3‐Hydroxy‐3‐methylglutaric aciduria is a rare human autosomal recessive disorder caused by deficiency of 3‐hydroxy‐3‐methylglutaryl CoA lyase (HL). This mitochondrial enzyme catalyzes the common final ...