Results 181 to 190 of about 12,812 (223)
Some of the next articles are maybe not open access.
1995
Glutaric aciduria type 1 is a rare autosomal recessive metabolic disorder with highly variable clinical symptomatology.
Marjo S. van der Knaap, Jacob Valk
openaire +1 more source
Glutaric aciduria type 1 is a rare autosomal recessive metabolic disorder with highly variable clinical symptomatology.
Marjo S. van der Knaap, Jacob Valk
openaire +1 more source
Etiology and Treatment of Glutaric Aciduria Type I
Journal of Clinical and Medical ImagesIn contrast to other rare and intractable conditions with elusive origins, the causes of genetic diseases, such as Glutaric Aciduria Type I, are well understood by scientists.
Xinghong Yang
semanticscholar +1 more source
Anales espanoles de pediatria, 1993
We report three patients with glutaric aciduria type I. The biochemical diagnosis of two cases was revealed by determination of free glutaric acid in urine, by using the CG/EM method. In the third patient, however, these levels were only slightly increased and the diagnosis was attained by the determination of total glutaric acid and glutaryl-carnitine.
J M, Prats Viñas +4 more
openaire +1 more source
We report three patients with glutaric aciduria type I. The biochemical diagnosis of two cases was revealed by determination of free glutaric acid in urine, by using the CG/EM method. In the third patient, however, these levels were only slightly increased and the diagnosis was attained by the determination of total glutaric acid and glutaryl-carnitine.
J M, Prats Viñas +4 more
openaire +1 more source
2016
Glutaric aciduria type I is a rare organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme involved in the final common catabolic pathways of L-lysine, L-hydroxylysine, and L-trytophan. The majority of untreated patients develop striatal injury and secondary dystonia during infancy and childhood, whereas ...
openaire +1 more source
Glutaric aciduria type I is a rare organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme involved in the final common catabolic pathways of L-lysine, L-hydroxylysine, and L-trytophan. The majority of untreated patients develop striatal injury and secondary dystonia during infancy and childhood, whereas ...
openaire +1 more source
Glutaric aciduria in progressive choreo‐athetosis
Clinical Genetics, 1978The clinical symptoms in a 10‐year‐old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl‐CoA.A survey is given of the clinical and biochemical symptoms, based on the five cases reported ...
N J, Brandt +4 more
openaire +2 more sources
Glutaric aciduria: Biochemical and morphologic considerations
The Journal of Pediatrics, 1977Biochemical and morphologic studies on a patient with glutaric aciduria are presented. Generalized aminoaciduria, alpha-aminoadipic aciduria, and saccharopinuria were noted just prior to death, as well as glutaconic aciduria greater than beta-hydroxyglutaric aciduria.
S I, Goodman +4 more
openaire +2 more sources
Glutaric aciduria mediated by gut bacteria
Journal of Inherited Metabolic Disease, 1995Item does not contain ...
Wendel, U.A.H. +3 more
openaire +5 more sources
2017
Glutaric Aciduria type I is a recessive inborn error of metabolism caused by deficiency of glutaryl-CoA dehydrogenase. This enzyme is responsible for catabolism of L-lysine, L-hydroxylysine, and L-tryptophan. Deficiency of this enzyme leads to abnormal accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine ...
openaire +1 more source
Glutaric Aciduria type I is a recessive inborn error of metabolism caused by deficiency of glutaryl-CoA dehydrogenase. This enzyme is responsible for catabolism of L-lysine, L-hydroxylysine, and L-tryptophan. Deficiency of this enzyme leads to abnormal accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine ...
openaire +1 more source