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Laurent Gouya

Paris Diderot University
French Institute of Health and Medical Research
University of Paris

171

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3504

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Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

2021 Archives of Cardiovascular Diseases Supplements
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A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.

2021 Haematologica
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Family history of aortic dissection is not a risk factor in Marfan syndrome with a FBN1 gene mutation

2021 European Heart Journal
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EIGHTEEN-MONTH INTERIM ANALYSIS OF EFFICACY AND SAFETY OF GIVOSIRAN, AN RNAI THERAPEUTIC FOR ACUTE HEPATIC PORPHYRIA, IN THE ENVISION OPEN LABEL EXTENSION

2021 Hematology, Transfusion and Cell Therapy
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Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay

2021 Metabolites
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Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.

2021 Genetics in Medicine
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Deficient mitophagy pathways in sickle cell disease

2021 British Journal of Haematology
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Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

2021 Molecular genetics and metabolism reports
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ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria.

2021 Blood Advances
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mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks

2021 Molecular therapy. Nucleic acids
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