Francois Feillet

Nancy, France

Last Updated: 09/26/2026

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Found 173 publications

Amino Acid Deficiency Secondary to Continuous Venovenous Hemofiltration in Acute Decompensation of Organic Acidemias: An Anabolic Dead End?

Amino Acid Deficiency Secondary to Continuous Venovenous Hemofiltration in Acute Decompensation of Organic Acidemias: An Anabolic Dead End?

Journal: Critical care explorations

Published: August 01, 2026

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis.

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: February 02, 2026

Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice.

Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice.

Journal: Orphanet journal of rare diseases

Published: December 23, 2025

Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation.

Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation.

Journal: Orphanet journal of rare diseases

Published: December 15, 2025

High-Dose L-Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature.

High-Dose L-Serine Supplementation During Febrile Decompensation in SARS1 Deficiency: A Case Report and Review of the Literature.

Journal: JIMD reports

Published: November 27, 2025

Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France.

Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France.

Journal: Advances in therapy

Published: October 06, 2025

Long-Term Follow-Up of Patients With Transaldolase Deficiency.

Long-Term Follow-Up of Patients With Transaldolase Deficiency.

Journal: Journal of inherited metabolic disease

Published: September 30, 2025

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Journal: American journal of human genetics

Published: September 26, 2025

Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study.

Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study.

Journal: Molecular genetics and metabolism

Published: September 18, 2025

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal: Journal of inherited metabolic disease

Published: June 24, 2025

Exome-based genotype-first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.

Exome-based genotype-first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.

Journal: Hepatology research : the official journal of the Japan Society of Hepatology

Published: March 19, 2025

Nutritional value of organic food in children.

Nutritional value of organic food in children.

Journal: Nutrition research reviews

Published: February 26, 2025

Showing 1-12 of 173

Last Updated: 09/26/2026