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Porphyria Diagnostics – Part 1: A brief overview of the porphyrias

The porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by the excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. Porph...

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Podrobná bibliografie
Vydáno v:Curr Protoc Hum Genet
Hlavní autoři: Ramanujam, Vaithamanithi-Mudumbai Sadagopa, Anderson, Karl Elmo
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4640448/
https://ncbi.nlm.nih.gov/pubmed/26132003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/0471142905.hg1720s86
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