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delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
delta-Aminolevulinate dehydratase deficient porphyria, a recently recognized inborn error of heme biosynthesis, results from the markedly deficient activity of the heme biosynthetic enzyme, delta-aminolevulinate dehydratase (ALA-D). The four homozygotes described to date with this disorder have rema...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1991
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1683193/ https://ncbi.nlm.nih.gov/pubmed/2063868 |
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