Caroline Schmitt

Université Paris Cité — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

29h-index2.5kcitations103works2.72yr avg
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Research Topics

Porphyrin Metabolism and Disorders(50), Heme Oxygenase-1 and Carbon Monoxide(40), Neonatal Health and Biochemistry(21), Folate and B Vitamins Research(12), Metabolism and Genetic Disorders(9)

Publications101 total

Primary adrenal insufficiency associated with homozygous hereditary coproporphyria
European Journal of Endocrinology·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
Hyponatremia associated with acute intermittent porphyria
Kidney International·2024· 1 cited
04108 Characterization of heme-induced toxicity and ferroptosis in placental cells
2024Open Access
04194 In-depth biochemical investigations in a new case of ALAD deficiency: better understanding for better treatment
2024· 1 citedOpen Access
Practical recommendations for biochemical and genetic diagnosis of the porphyrias
Liver International·2024· 12 citedOpen Access
Erythropoietic protoporphyrias: updates and advances
Trends in Molecular Medicine·2024· 8 cited
Elucidating the pivotal role of TSPO in porphyrin-related cellular processes, in Bacillus cereus
Biochimie·2024· 4 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
Analysis of the postoperative sagittal alignment after surgical therapy of spinal metastasis: A single center study
Brain and Spine·2024Open Access
Management of erythropoietic protoporphyria with cholestatic liver disease: A case report
Molecular Genetics and Metabolism Reports·2023· 6 citedOpen Access
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
The American Journal of Human Genetics·2023· 29 citedOpen Access
Quantification of Urine and Plasma Porphyrin Precursors Using LC–MS in Acute Hepatic Porphyrias: Improvement in Routine Diagnosis and in the Monitoring of Kidney Failure Patients
Clinical Chemistry·2023· 5 citedOpen Access
Evaluation of iron metabolism in hospitalized COVID-19 patients
Clinica Chimica Acta·2023· 3 cited
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
2023· 4 citedOpen Access
Porfirias hereditarias en niños
EMC - Pediatría·2022
Givosiran in acute intermittent porphyria: A personalized medicine approach
Molecular Genetics and Metabolism·2022· 42 cited
Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay
Metabolites·2021· 31 citedOpen Access
Autofluorescence imaging within the liver: a promising tool for the detection and characterization of primary liver tumors
European Radiology·2021· 4 cited
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Frequent Co-authors

Hervé Puy(29), Laurent Gouya(25), Jean‐Charles Deybach(15), Zoubida Karim(10), Thibaud Lefèbvre(9), Arienne Mirmiran(9), Katell Peoc’h(8), Hana Manceau(8), Sylvie Simonin(7), Saı̈d Lyoumi(7), Carole Beaumont(5), Sverre Sandberg(5), Aasne K. Aarsand(5), Nicolas Pallet(5), Antoine Poli(5), Hugo Lenglet(4), Jordi To‐Figueras(4), Alexandre Karras(4), Neila Talbi(4), Boualem Moulouel(4)