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Organic aciduria. Treatable cause of floppy infant syndrome.
A floppy infant is described who has an inborn error of organic acid metabolism due to defective activity of the enzyme beta-methylcrotonyl CoA carboxylase. She presented with hyperventilation, hypotonia, and regression of motor and intellectual development. She responded to treatment with biotin.
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| Autor principal: | |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
1976
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1546117/ https://ncbi.nlm.nih.gov/pubmed/962376 |
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