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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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Detalhes bibliográficos
Autor principal: Keeton, B R
Formato: Artigo
Idioma:Inglês
Publicado em: 1976
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1546117/
https://ncbi.nlm.nih.gov/pubmed/962376
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