EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
2019 · Hepatology · 158 citations
https://doi.org/10.1002/hep.30936
L
Laurent Gouya
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Laurent Gouya is an academic researcher from Hôpital Necker-Enfants Malades. The author has contributed to research in topics: Porphyrin Metabolism and Disorders & Heme Oxygenase-1 and Carbon Monoxide & Neonatal Health and Biochemistry. The author has an h-index of 49, co-authored 165 publications.
ORCID: 0000-0002-1326-7025Papers by this author
worksPorphyrias: A 2015 update
2015 · Clinics and Research in Hepatology and Gastroenterology · 146 citations
https://doi.org/10.1016/j.clinre.2015.05.009
MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections
2014 · The American Journal of Human Genetics · 136 citations
https://doi.org/10.1016/j.ajhg.2014.10.018
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm
2020 · Genetics in Medicine · 45 citations
https://doi.org/10.1038/s41436-020-00947-4
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis
2019 · Orphanet Journal of Rare Diseases · 37 citations
https://doi.org/10.1186/s13023-019-1256-5
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
2023 · The American Journal of Human Genetics · 29 citations
https://doi.org/10.1016/j.ajhg.2023.08.012
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