Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients-Reference-Cited by-同舟云学术

Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients

Published:2021-03-25 Issue: Volume: Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Martinez María del Carmen¹²^ORCID,Cerbino Gabriela Nora¹^ORCID,Granata Bárbara Xoana¹,Batlle Alcira¹,Parera Victoria Estela¹,Rossetti María Victoria¹^ORCID

Affiliation:

1. Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP) Hospital de Clínicas José de San Martín, CONICET‐UBA Buenos Aires Argentina

2. Departamento de Química Biológica Facultad de Ciencias Exactas y Naturales – Universidad de Buenos Aires (UBA) Buenos Aires Argentina

Funder

Universidad de Buenos Aires

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1059

Reference31 articles.

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2. Rare mutation of the PPOX gene in a patient with Porphyria Variegate: a case report in Peru;REV CUERPO MED HOSP;2023

3. Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications;Diagnostics;2021-12-10