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Mutation analysis in glutaric aciduria type I
Glutaric aciduria type 1 (GA1), resulting from the genetic deficiency of glutaryl-CoA dehydrogenase (GDH), is a relatively common cause of acute metabolic brain damage in infants. Encephalopathic crises may be prevented by carnitine supplementation and diet, but diagnosis can be difficult as some pa...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Group
2000
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734541/ https://ncbi.nlm.nih.gov/pubmed/10699052 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.3.177 |
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