Laurent Gouya

Hôpital Necker-Enfants Malades — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

48h-index8.1kcitations195works1.82yr avg
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Research Topics

Porphyrin Metabolism and Disorders(103), Heme Oxygenase-1 and Carbon Monoxide(76), Neonatal Health and Biochemistry(45), Folate and B Vitamins Research(40), Connective tissue disorders research(27)

Publications195 total

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS
Journal of Medical Genetics·2025Open Access
Simple Renal Cysts in Marfan Syndrome
JACC Advances·2025Open Access
Family history of aortic dissection in fibrillin-1 pathogenic variant
European Heart Journal·2025
Adrenal insufficiency associated with mutations in haem biosynthesis genes
Endocrine Abstracts·2025· 1 cited
1278: PATIENT DEMOGRAPHICS AND CLINICAL CHARACTERISTICS AT ENROLMENT IN ELEVATE, AN INTERNATIONAL REGISTRY OF ACUTE HEPATIC PORPHYRIA
Gastroenterology·2025
Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long‐term management of patients
Journal of Inherited Metabolic Disease·2024· 1 cited
Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates
Gut·2024· 9 citedOpen Access
Adrenal insufficiency associated with mutations in haem biosynthesis genes, is it a coincidence?
Endocrine Abstracts·2024
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases
Molecular Genetics and Metabolism·2024· 4 cited
04190 Adrenal insufficiency associated with mutations in haem biosynthesis genes
2024Open Access
04104 Patient demographics and clinical characteristics at enrolment in ELEVATE, an international registry of acute hepatic porphyria
2024Open Access
Erythropoietic protoporphyrias: updates and advances
Trends in Molecular Medicine·2024· 8 cited
Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review
Molecular Genetics and Metabolism Reports·2024· 1 citedOpen Access
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome
Journal of Medical Genetics·2024· 1 citedOpen Access
Successful Treatment of Congenital Erythropoietic Porphyria Using Matched Unrelated Hematopoietic Stem Cell Transplantation in an Adult: A Case Report
Skin Health and Disease·2024· 1 citedOpen Access
Severe Perinatal Presentations of Günther’s Disease: Series of 20 Cases and Perspectives
Life·2024· 2 citedOpen Access
Premier cas de maladie de Günther traitée par allogreffe de moelle osseuse chez un adulte
Annales de Dermatologie et de Vénéréologie - FMC·2023
Management of erythropoietic protoporphyria with cholestatic liver disease: A case report
Molecular Genetics and Metabolism Reports·2023· 6 citedOpen Access
Adrenal insufficiency can be associated with biallelic mutations in porphyria genes
Endocrine Abstracts·2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
The American Journal of Human Genetics·2023· 29 citedOpen Access
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Frequent Co-authors

Hervé Puy(26), Jean‐Charles Deybach(21), Zoubida Karim(14), Cathérine Boileau(11), Bernard Grandchamp(10), Guillaume Jondeau(10), Carole Beaumont(10), Caroline Schmitt(9), Nadine Hanna(8), J. Lamoril(8), Saı̈d Lyoumi(8), Caroline Kannengiesser(6), Thibaud Lefèbvre(6), Elisabeth I. Minder(5), Anne-Marie Robréau(5), Vasco Da Silva(5), Y Nordmann(5), Mélodie Aubart(5), Olivier Milleron(5), Hana Manceau(5)