Glutaric acidemia (type I)

Glutaric aciduria; A “new” disorder of amino acid metabolism

1975 • 331 citations

The Biochemical Basis of Neuropharmacology

1992 • 322 citations

Glutaric aciduria: Biochemical and morphologic considerations

1977 • 196 citations

Glutaric aciduria type I: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania

1991 • 147 citations

CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients.

1995 • 136 citations

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

1991 • 133 citations

Glutaric acidemia

1980 • 113 citations

Mammalian Metabolism of Glutaric Acid

1969 • 95 citations

Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and β-Hydroxyglutarate: Explanation of the symptoms in glutaric aciduria?

1976 • 92 citations

Glutaric aciduria: Inherited deficiency of glutaryl-CoA dehydrogenase activity

1975 • 77 citations

Acute profound dystonia in infants with glutaric acidemia.

1989 • 70 citations

Hypothesis: A Role for Quinolinic Acid in the Neuropathology of Glutaric Aciduria Type I

1987 • 69 citations

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

1995 • 69 citations

A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I

1995 • 69 citations

Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds

1989 • 67 citations

Striatal degeneration and spongy myelinopathy in glutaric acidemia

1992 • 55 citations

Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I

1989 • 47 citations

Assignment of Human Glutaryl-CoA Dehydrogenase Gene (GCDH) to the Short Arm of Chromosome 19 (19p13.2) by in Situ Hybridization and Somatic Cell Hybrid Analysis

1994 • 46 citations

CT‐scan Findings in an Infant with Glutaric Aciduria Type I

1988 • 39 citations

Neurotoxic effects of endogenous materials: Quinolinic acid, l-pyroglutamic acid, and thyroid releasing hormone (TRH)

1984 • 30 citations

In Reply: Were the Good Old Days Better?

1989 • 21 citations

THE USE OF ORGANOTYPIC TISSUE CULTURE FOR STUDY OF AMINO ACID NEUROTOXICITY AND ITS ANTAGONISM IN MAMMALIAN CNS

1984 • 16 citations