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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Hlavní autoři: Wang, Yuesong, Scott, C. Ronald, Gelb, Michael H., Tureček, František
Médium: Artigo
Jazyk:Inglês
Vydáno: 2008
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Article
On-line přístup: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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