Laboratory Diagnosis of Porphyria

Laboratory Diagnosis of Porphyria

Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pa...

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Bibliographic Details
Main Authors: Elena Di Pierro, Michele De Canio, Rosa Mercadante, Maria Savino, Francesca Granata, Dario Tavazzi, Anna Maria Nicolli, Andrea Trevisan, Stefano Marchini, Silvia Fustinoni
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Diagnostics
Subjects:
porphyria
ALA (5-aminolevulinic acid)
PBG (porphobilinogen)
porphyrins
HPLC (high-pressure liquid chromatography)
MLPA (multiplex ligation-dependent probe amplification)
Online Access:https://www.mdpi.com/2075-4418/11/8/1343

Internet

https://www.mdpi.com/2075-4418/11/8/1343

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