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• W2005641373 abstract "L-2-Hydroxyglutaric aciduria is an inborn error of metabolism, which has been recognized in humans since 1980. The metabolic defect responsible for the disease is unknown, but the disorder can be diagnosed in humans by elevations of the organic acid, L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF), plasma, and urine of affected patients. The disorder produces a variety of clinical neurological defects in humans including psychomotor retardation, seizures, and ataxia. There have previously been no recognized animal models of the disease. However, 6 Staffordshire Bull Terriers were recently identified with the disorder. The animals presented with a variety of clinical signs, most notably seizures, ataxia, dementia, and tremors. They were all screened for organic acid abnormalities in urine, and CSF and plasma (when available). Levels of L-2-hydroxyglutaric acid were elevated in all body fluids evaluated. The clinical, clinicopathologic, and magnetic resonance imaging (MRI) characteristics associated with L-2-hydroxyglutaric acid in Stafforshire Bull Terriers is reported herein and represents the first veterinary model of this inborn error of metabolism." @default.
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• W2005641373 date "2003-07-01" @default.
• W2005641373 modified "2023-10-17" @default.
• W2005641373 title "L-2-Hydroxyglutaric Aciduria in Staffordshire Bull Terriers" @default.
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• W2005641373 doi "https://doi.org/10.1111/j.1939-1676.2003.tb02477.x" @default.
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