Asociación sin ánimo de lucro, inscrita en el Registro Nacional de Asociaciones con el número 613.620. Pertenece a FEDER, Federación Española de Enfermedades Raras que une a toda la comunidad de familias con enfermedades poco frecuentes en España; y a FEEHM, Federación Española de Enfermedades Metabólicas Hereditarias.
Studies on glutaryl Co A dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria 1978...
Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency 2013...
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion 1997...
710f2c34d72eef1b2425117ca0a7da13Case report severe phenotype despite high residual glutaryl-CoA dehydrogenase activity a novel mutation in a turkish patient with glutaric aciduria type I 2003...
A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA Application in the genotyping of the glutaryl-CoA dehydrogenase locus 1993...
Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization tandem mass spectrometry 2009...
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