Work

A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria

Year: 2021

Type: article

Abstract: The proband (III:2) was examined twice: first at the initial visit associated with iron deficiency and one year later after oral iron supplementation.

Source: Haematologica

DOI: 10.3324/haematol.2020.272450

Authors: Sarah Ducamp, Sara Luscieti, Xènia Ferrer-Cortès, Gaël Nicolas, Hana Manceau, Katell Peoc’h, Yvette Y. Yien, Caroline Kannengiesser, Laurent Gouya, Herve Puy, Mayka Sanchez

Institutions: Centre National de la Recherche Scientifique, Inserm, Sorbonne Paris Cité, Laboratory of Excellence GR-Ex, Centre de Recherche sur l'Inflammation, Université Paris Diderot, Institute of Predictive and Personalized Medicine of Cancer, Universitat Internacional de Catalunya, Hôpital Louis-Mourier, Assistance Publique – Hôpitaux de Paris, University of Delaware

Language: English

Topic: Porphyrin Metabolism and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,157

Funders: Agence Nationale de la Recherche, Generalitat de Catalunya, José Carreras Leukämie-Stiftung, National Institutes of Health, Agencia Estatal de Investigación, National Institute of Diabetes and Digestive and Kidney Diseases

Awards: G1400355639, G304773848, Control of porphyrin synthesis by CLPX: a novel regulatory node in erythroid heme synthesis, Biogenèse et pathologies du globule rouge, G4774453313, G4866930200, Objectif Terre : Bassin Méditerranéen, Université Sorbonne Paris Cité, G8871893792

OpenAlex ID: W3130634435

FWCI: 1.005

Cites: 16

Cited by: 22

Related to: 10