A rare case of type i glutaric aciduria in an early child
Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH). Cerebral organic aciduria, caused by a deficiency of glutaryl-COA - dehydroge...
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Main Authors: | A. A. Lebedenko, S. B. Berezhanskay, A. S. Todorova, N. N. Vostrykh, E. Y. Kaushanskay, E. A. Lukyanova, E. A. Papsheva, G. N. Smykova, L. N. Taranenko |
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Format: | Article |
Language: | English |
Published: |
State Budget Educational Institute of Higher Professional Education, Rostov State Medical University, Ministry Health of Russian Federation
2020-12-01
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Series: | Медицинский вестник Юга России |
Subjects: | |
Online Access: | https://www.medicalherald.ru/jour/article/view/1300 |
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