Caroline Schmitt

Associate professor

INSERM U1148

France

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Caroline Schmitt is an Associate Professor at INSERM U1149 in France. Her research focuses on the metabolic and genetic understanding of porphyrias, particularly acute intermittent porphyria, and includes the investigation of novel biomarkers and treatment methodologies. Recent publications highlight her work on urine metabolomic analysis, TSPO's role in cellular processes, and advancements in diagnosing and managing erythropoietic protoporphyrias.

Articles (20)

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2020

Collaborators (12)

MERCIE Patrick

Professor of internal medicine

Université de Bordeaux UFR des Sciences Médicales

FRANCE

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Juha P. Kallio

NORWAY

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Helene J. Bustad

NORWAY

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Jean-Jacques LACAPERE

CNRS Délégation Paris B

FRANCE

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Marie-Louise Frémond

Université Paris Cité

FRANCE

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Antonio Fontanellas

Universidad de Navarra

SPAIN

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Sami Mustajoki

Tampere University

FINLAND

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Maxime Jullien

Nantes University Hospital

FRANCE

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Edith Friesema

Erasmus University Rotterdam

NETHERLANDS

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Catherine Duport

Professor

Avignon Université

FRANCE

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PIERRE PETERLIN

Nantes University Hospital

FRANCE

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Aasne K. Aarsand

Haukeland University Hospital

NORWAY

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Caroline Schmitt

Research Interests

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Articles (20)

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

Severe Perinatal Presentations of Günther’s Disease: Series of 20 Cases and Perspectives

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report

Elucidating the pivotal role of TSPO in porphyrin-related cellular processes, in Bacillus cereus

Hyponatremia associated with acute intermittent porphyria

Erythropoietic protoporphyrias: updates and advances

Practical recommendations for biochemical and genetic diagnosis of the porphyrias

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Management of erythropoietic protoporphyria with cholestatic liver disease: A case report

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

Autofluorescence imaging within the liver: a promising tool for the detection and characterization of primary liver tumors

Givosiran in acute intermittent porphyria: A personalized medicine approach

Orientation diagnostique devant une coloration anormale des urines : la roue à urines 2.0

Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay

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

Hepcidin and Iron Deficiency in Women One Year after Sleeve Gastrectomy: A Prospective Cohort Study

Renal Function Decline Under Therapy With Small Interfering RNA Silencing ALAS1 for Acute Intermittent Porphyria

Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators

Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria

Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction

Collaborators (12)

MERCIE Patrick

Juha P. Kallio

Helene J. Bustad

Jean-Jacques LACAPERE

Marie-Louise Frémond

Antonio Fontanellas

Sami Mustajoki

Maxime Jullien

Edith Friesema

Catherine Duport

PIERRE PETERLIN

Aasne K. Aarsand

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