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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a disorder of fatty acid catabolism, with autosomal recessive inheritance. The disease is characterized by episodic illness associated with potentially fatal hypoglycemia and has a relatively high frequency. A rapid and reliable method...
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Main Authors: | , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
1993
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1682046/ https://ncbi.nlm.nih.gov/pubmed/8488845 |
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