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Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: The challenge

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Journal of Inherited Metabolic Disease

Abstract

Summary: The purpose of this review is to set the stage for discussions that follow about the biochemical and molecular bases of glutaric acidaemia type I, and about the pathogenesis of the characteristic acute striatal necrosis that often occurs during the first years of life.

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REFERENCE

  • Stokke O, Goodman SI, Moe PG (1976)Inhibition of brain glutamate decarboxylase by glutarate,glutaconate,and β-hydroxyglutarate:explanation of the symptoms in glutaric aciduria?Clin Chim Acta 66:411-415.

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  1. Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO 80045, USA

    S. I. Goodman

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  1. S. I. Goodman
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Correspondence to S. I. Goodman.

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Goodman, S.I. Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: The challenge. J Inherit Metab Dis 27, 801–803 (2004). https://doi.org/10.1023/B:BOLI.0000045761.01465.47

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  • DOI: https://doi.org/10.1023/B:BOLI.0000045761.01465.47

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