Frederique Sabourdy

Toulouse, France

Last Updated: 09/26/2026

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Found 23 publications

Incidental maternal glutaric aciduria type I detection through newborn screening: A case report.

Incidental maternal glutaric aciduria type I detection through newborn screening: A case report.

Journal: Molecular genetics and metabolism reports

Published: October 22, 2025

Human genetic defects of sphingolipid synthesis.

Human genetic defects of sphingolipid synthesis.

Journal: Journal of inherited metabolic disease

Published: January 15, 2024

Dietary Amino Acid Source Elicits Sex-Specific Metabolic Response to Diet-Induced NAFLD in Mice.

Dietary Amino Acid Source Elicits Sex-Specific Metabolic Response to Diet-Induced NAFLD in Mice.

Journal: Molecular nutrition & food research

Published: July 13, 2023

Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer.

Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer.

Journal: Cancers

Published: August 11, 2022

Dyslipidemia: Are You Sure It Is Cholesterol?

Dyslipidemia: Are You Sure It Is Cholesterol?

Journal: Clinical chemistry

Published: December 22, 2020

A diagnosis of progressive myoclonic ataxia guided by blood biomarkers.

A diagnosis of progressive myoclonic ataxia guided by blood biomarkers.

Journal: Parkinsonism & related disorders

Published: October 02, 2020

Acrodermatitis enteropathica-like eruption secondary to vitamin and amino acid deficiencies associated with pancreatic tumour.

Acrodermatitis enteropathica-like eruption secondary to vitamin and amino acid deficiencies associated with pancreatic tumour.

Journal: Annales de dermatologie et de venereologie

Published: May 09, 2020

Are Glucosylceramide-Related Sphingolipids Involved in the Increased Risk for Cancer in Gaucher Disease Patients? Review and Hypotheses.

Are Glucosylceramide-Related Sphingolipids Involved in the Increased Risk for Cancer in Gaucher Disease Patients? Review and Hypotheses.

Journal: Cancers

Published: November 28, 2019

First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation.

First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation.

Journal: International journal of molecular sciences

Published: October 07, 2019

Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnoses.

Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnoses.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: March 22, 2019

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

Journal: JIMD reports

Published: December 21, 2018

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.

Journal: Molecular genetics and metabolism

Published: June 06, 2017

Showing 1-12 of 23

Last Updated: 09/26/2026