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A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
A patient with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is reported. He had a severe neonatal presentation and cardiomyopathy. He was found to be homozygous for a severe mutation with no residual enzyme activity. Tandem mass spectrometry on dried blood spots revealed increased long...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2001
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1718627/ https://ncbi.nlm.nih.gov/pubmed/11124787 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.84.1.58 |
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