Brazilian registry of patients with porphyria: REBRAPPO study

Abstract Background Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic symptoms interposed by life-threatening a...

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Bibliographic Details
Published in:Orphanet Journal of Rare Diseases
Main Authors: Paulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Ana Carolina dos Santos Jorge, Roberta Ismael Lacerda Machado, Icaro França Navarro Pinto, Glenda Barbosa Barros, Helvia Bertoldo de Oliveira, Samia Rogatis Calil, Cibele Franz, Acary Souza Bulle Oliveira
Format: Article
Language:English
Published: BMC 2023-03-01
Subjects:
Porphyrias
Acute hepatic porphyria
Heme metabolism
Hereditary rare diseases
Givosiran
Natural history
Online Access:https://doi.org/10.1186/s13023-023-02653-1

Internet

https://doi.org/10.1186/s13023-023-02653-1

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