Add to ORKGria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. Accumulation of D-2-hydroxyglutarate (D-2-HG) and/or L-2-hydroxyglutarate (L-2-HG) in body fluids are the bio-chemical hallmarks of these disorders. The current review describes the knowledge gathered on 2-hydroxyglutaric acidurias (2-HGA), since the description of the first patients in 1980. We report on the clinical, genetic, enzymatic and metabolic characterization of D-2-HGA type I, D-2-HGA type II, L-2-HGA and D,L-2-HGA, whereas for D-2-HGA type I and type II novel clinical information is presented which was derived from questionnaires
Introduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic dis...
l-2-hydroxyglutaric aciduria (l-2-HGA) is a rare inherited autosomal recessive neurometabolic disord...
L-2-hydroxiglutaric aciduria is a rare, autosomal recessive inherited metabolic disorder. The diseas...
The organic acidurias D: -2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HG...
As acidúrias D-2-hidroxiglutárica (D-2-HGA) e L-2-hidroxiglutárica (L-2-HGA) são raras doenças neuro...
L-2-hydroxyglutaric aciduria is a neurometabolic disorder characterized by the presence of elevated ...
We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric acidur...
WOS: 000276810600002PubMed ID: 20052767L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometaboli...
L-2-Hydroxyglutaric (L-2-HG) aciduria is a rare inherited metabolic disease usually observed in chil...
Aim:L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by muta...
Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder,...
L-2-Hydroxyglutaric acidaemia represents a newly defined inborn error of metabolism, with increased ...
L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease chara...
L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive ...
AbstractD-2-Hydroxyglutaric aciduria is an inborn error of metabolism first described in 1980. To da...
Introduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic dis...
l-2-hydroxyglutaric aciduria (l-2-HGA) is a rare inherited autosomal recessive neurometabolic disord...
L-2-hydroxiglutaric aciduria is a rare, autosomal recessive inherited metabolic disorder. The diseas...
The organic acidurias D: -2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HG...
As acidúrias D-2-hidroxiglutárica (D-2-HGA) e L-2-hidroxiglutárica (L-2-HGA) são raras doenças neuro...
L-2-hydroxyglutaric aciduria is a neurometabolic disorder characterized by the presence of elevated ...
We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric acidur...
WOS: 000276810600002PubMed ID: 20052767L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometaboli...
L-2-Hydroxyglutaric (L-2-HG) aciduria is a rare inherited metabolic disease usually observed in chil...
Aim:L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by muta...
Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder,...
L-2-Hydroxyglutaric acidaemia represents a newly defined inborn error of metabolism, with increased ...
L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease chara...
L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive ...
AbstractD-2-Hydroxyglutaric aciduria is an inborn error of metabolism first described in 1980. To da...
Introduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic dis...
l-2-hydroxyglutaric aciduria (l-2-HGA) is a rare inherited autosomal recessive neurometabolic disord...
L-2-hydroxiglutaric aciduria is a rare, autosomal recessive inherited metabolic disorder. The diseas...