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

โœ Scribed by S. I. Goodman

Book ID
111574797
Publisher
Springer
Year
2004
Tongue
English
Weight
51 KB
Volume
27
Category
Article
ISSN
0141-8955

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## Abstract Glutarylโ€CoA dehydrogenase deficiency is an inherited organic aciduria with predominantly neurological presentation. Biochemically, it is characterized by an accumulation and enhanced urinary excretion of two key organic acids, glutaric acid and 3โ€hydroxyglutaric acid. If untreated, acu