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Direct Assay of Enzymes in Heme Biosynthesis for the Detection of Porphyrias by Tandem Mass Spectrometry. Porphobilinogen Deaminase

We report a new assay of human porphobilinogen deaminase (PBGD). Deficiency in this enzyme activity causes acute intermittent porphyria, the most common disorder of heme biosynthesis. The assay involves incubation of blood erythrocyte lysate with porphobilinogen, the natural PBGD substrate. Two subs...

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書誌詳細
主要な著者: Wang, Yuesong, Scott, C. Ronald, Gelb, Michael H., Tureček, František
フォーマット: Artigo
言語:Inglês
出版事項: 2008
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2565751/
https://ncbi.nlm.nih.gov/pubmed/18294005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/ac702244x
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