Patricia Dubot
Toulouse, France
Last Updated: 09/26/2026
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Found 16 publications
Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study.
Journal: Molecular genetics and metabolism
Published: April 10, 2025
Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice.
Journal: Clinical genetics
Published: February 24, 2025
Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins.
Journal: bioRxiv : the preprint server for biology
Published: May 07, 2024
Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation.
Journal: The Journal of clinical investigation
Published: January 26, 2024
Human genetic defects of sphingolipid synthesis.
Journal: Journal of inherited metabolic disease
Published: January 15, 2024
Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer.
Journal: Cancers
Published: August 11, 2022
ATGL-dependent white adipose tissue lipolysis controls hepatocyte PPARα activity.
Journal: Cell reports
Published: February 04, 2022
Dyslipidemia: Are You Sure It Is Cholesterol?
Journal: Clinical chemistry
Published: December 22, 2020
A diagnosis of progressive myoclonic ataxia guided by blood biomarkers.
Journal: Parkinsonism & related disorders
Published: October 02, 2020
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.
Journal: International journal of molecular sciences
Published: October 07, 2019
Last Updated: 09/26/2026