|1.||Kölker, S: 4 articles (01/2004 - 01/2004)|
|2.||Hoffmann, G F: 4 articles (01/2004 - 10/2002)|
|3.||Wajner, Moacir: 3 articles (06/2010 - 11/2002)|
|4.||Latini, Alexandra: 2 articles (02/2007 - 11/2002)|
|5.||Okun, J G: 2 articles (01/2004 - 01/2004)|
|6.||Christensen, E: 2 articles (01/2004 - 10/2002)|
|7.||Greenberg, C R: 2 articles (01/2004 - 01/2004)|
|8.||Zschocke, J: 2 articles (01/2004 - 10/2002)|
|9.||de Souza, Daniela Fraga: 1 article (06/2010)|
|10.||Rosa, Rafael Borba: 1 article (06/2010)|
|2.||Dystonia (Limb Dystonia)
11/01/2005 - "Glutaryl-CoA dehydrogenase deficiency (GA-I) is associated with the onset of irreversible, disabling dystonia between 3 and 18 months of age. "
01/01/2004 - "Like the mouse, these bats develop the characteristic biochemical phenotype of glutaryl-CoA dehydrogenase deficiency, but lack overt neurological symptoms such as dystonia. "
02/01/1989 - "Acute profound dystonia developed in three previously well infants who were found to have glutaryl-CoA dehydrogenase deficiency in cultured skin fibroblasts. "
04/01/1979 - "The autosomal recessive inherited disorder glutaryl-CoA dehydrogenase deficiency (glutaric aciduria) runs a progressive course with severe choreoathetosis and dystonia, eventually leading to total helplessness and early death. "
01/01/2004 - "Acute encephalopathic crisis in glutaryl-CoA dehydrogenase deficiency results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, seizures and secondary complications, and quite often leading to early death. "
01/01/1993 - "[Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)]."
01/01/2004 - "This article summarizes the magnetic resonance imaging features of glutaric aciduria type I (GA I) based on the cases presented at the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency together with a review of previously reported neuroimaging characteristics of GA I. Previous reports have focused on characteristic findings, such as basal ganglia injury and frontotemporal atrophy or hypoplasia, subdural effusions and white-matter disease. "
06/01/2010 - "Glutaryl-CoA dehydrogenase deficiency or glutaric acidemia type I (GA I) is an inherited neurometabolic disorder biochemically characterized by tissue accumulation of predominantly glutaric (GA) and 3-hydroxyglutaric (3OHGA) acids and clinically by severe neurological symptoms and structural brain abnormalities, manifested as progressive cerebral atrophy and acute striatum degeneration following encephalopathic crises, whose pathophysiology is still in debate. "
11/29/2002 - "Glutaryl-CoA dehydrogenase deficiency (GDD) is an inherited neurometabolic disorder biochemically characterized by tissue accumulation of glutaric, 3-hydroxyglutaric (3-OHGA) and glutaconic acids and clinically by severe neurological symptoms and cerebral atrophy whose pathophysiology is poorly known. "
11/01/1991 - "[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)]."
11/01/1997 - "Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dystonia may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease. "
01/01/2004 - "Three decades after the first description of glutaryl-CoA dehydrogenase deficiency, major progress has been achieved in the prevention of acute striatal necrosis and neurological sequelae in affected children, if diagnosis is made early and treatment is started before manifestation of acute encephalopathic crises. "
08/15/2003 - "Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. "
|7.||Botulinum Toxins (Botulinum Toxin)
|8.||Acyl Coenzyme A (Acyl CoA)
|9.||Medium chain acyl CoA dehydrogenase deficiency
|10.||succinic semialdehyde dehydrogenase deficiency