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Direct Assay of δ-Aminolevulinic Acid Dehydratase in Heme Biosynthesis for the Detection of Porphyrias by Tandem Mass Spectrometry

We report a new assay of human δ-aminolevulinic acid dehydratase (ALAD), an enzyme converting δ-aminolevulinic acid (ALA) into porphobilinogen. The assay is developed for use in the clinical diagnosis of δ-aminolevulinic acid dehydratase-deficient porphyria, a rare enzymatic deficiency of the heme b...

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Detalhes bibliográficos
Main Authors: Choiniere, John R., Scott, C. Ronald, Gelb, Michael H., Tureček, František
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2913591/
https://ncbi.nlm.nih.gov/pubmed/20583792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/ac101111m
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